#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
GATA3	2625	broad.mit.edu	37	10	8100451	8100451	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:8100451C>T	ENST00000346208.3	+	3	880	c.425C>T	c.(424-426)tCg>tTg	p.S142L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.S142L			P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCTCCTTGTCGGGGGGCCAC	0.726			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(424-426)tCg>tTg		GATA binding protein 3							37.0	48.0	44.0					10																	8100451		2203	4300	6503	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100451C>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.425C>T	10.37:g.8100451C>T	ENSP00000341619:p.Ser142Leu					GATA3_ENST00000346208.3_Missense_Mutation_p.S142L|GATA3_ENST00000461472.1_3'UTR	p.S142L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	993	+			142			Poly-Ser.		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.425C>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630685	0.67015	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96685	-4.09;-4.07	5.4	5.4	0.78164	.	0.479709	0.24089	N	0.041654	D	0.94925	0.8359	M	0.78049	2.395	0.44067	D	0.996817	P;B	0.36535	0.557;0.001	B;B	0.22753	0.041;0.002	D	0.94273	0.7512	10	0.31617	T	0.26	-14.0916	19.1817	0.93627	0.0:1.0:0.0:0.0	.	142;142	P23771;P23771-2	GATA3_HUMAN;.	L	142	ENSP00000368632:S142L;ENSP00000341619:S142L	ENSP00000341619:S142L	S	+	2	0	GATA3	8140457	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	5.979000	0.70508	2.526000	0.85167	0.561000	0.74099	TCG		0.726	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		33	107	0	0	0	1	0	33	107				
WDR33	55339	broad.mit.edu	37	2	128477018	128477018	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:128477018G>T	ENST00000322313.4	-	16	2739	c.2581C>A	c.(2581-2583)Cag>Aag	p.Q861K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	861					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGCCCCTGCTGACTTTGTGAG	0.652																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2581-2583)Cag>Aag		WD repeat domain 33							39.0	44.0	42.0					2																	128477018		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477018G>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2581C>A	2.37:g.128477018G>T	ENSP00000325377:p.Gln861Lys						p.Q861K	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2739	-	Colorectal(110;0.1)		861					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2581C>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162201	0.57368	.	.	ENSG00000136709	ENST00000322313	D	0.88975	-2.45	5.25	5.25	0.73442	.	0.144833	0.48767	D	0.000169	T	0.78792	0.4339	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.73110	-0.4086	10	0.13470	T	0.59	-7.4129	19.205	0.93726	0.0:0.0:1.0:0.0	.	861	Q9C0J8	WDR33_HUMAN	K	861	ENSP00000325377:Q861K	ENSP00000325377:Q861K	Q	-	1	0	WDR33	128193488	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.325000	0.96381	2.596000	0.87737	0.563000	0.77884	CAG		0.652	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		20	102	1	0	2.94398e-08	1	3.05169e-08	20	102				
ARHGAP31	57514	broad.mit.edu	37	3	119133024	119133024	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:119133024G>A	ENST00000264245.4	+	12	2780	c.2248G>A	c.(2248-2250)Gcc>Acc	p.A750T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	750	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.A750T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGACCTCGCCAGCCTGGC	0.592																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			1	Substitution - Missense(1)	p.A750T(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2248-2250)Gcc>Acc		Rho GTPase activating protein 31							52.0	57.0	56.0					3																	119133024		1996	4160	6156	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133024G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2248G>A	3.37:g.119133024G>A	ENSP00000264245:p.Ala750Thr						p.A750T	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	2780	+			750			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2248G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532782	0.27387	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07114	3.22	5.3	-5.06	0.02946	.	0.742689	0.12728	N	0.444136	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40421	-0.9564	10	0.23891	T	0.37	.	4.654	0.12608	0.338:0.1019:0.4663:0.0939	.	750	Q2M1Z3	RHG31_HUMAN	T	750	ENSP00000264245:A750T	ENSP00000264245:A750T	A	+	1	0	ARHGAP31	120615714	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-0.651000	0.05372	-0.899000	0.03901	-0.137000	0.14449	GCC		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			11	128	0	0	0	1	0	11	128				
GHR	2690	broad.mit.edu	37	5	42713545	42713545	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:42713545T>C	ENST00000230882.4	+	8	989	c.799T>C	c.(799-801)Tgg>Cgg	p.W267R	GHR_ENST00000357703.3_Missense_Mutation_p.W245R|GHR_ENST00000537449.1_Missense_Mutation_p.W80R	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	267					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTACTTTCCATGGCTCTTAAT	0.323																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(799-801)Tgg>Cgg		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						181.0	186.0	184.0					5																	42713545		2202	4295	6497	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42713545T>C		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.799T>C	5.37:g.42713545T>C	ENSP00000230882:p.Trp267Arg					GHR_ENST00000357703.3_Missense_Mutation_p.W245R|GHR_ENST00000537449.1_Missense_Mutation_p.W80R	p.W267R	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			8	989	+		Myeloproliferative disorder(839;0.00878)	267					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.799T>C	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749553	0.69533	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276;ENST00000537449	D;D;T	0.85702	-2.02;-1.89;-0.89	5.43	5.43	0.79202	.	0.224065	0.39341	N	0.001389	D	0.92909	0.7744	M	0.87971	2.92	0.46396	D	0.999026	D	0.89917	1.0	D	0.87578	0.998	D	0.93865	0.7157	10	0.66056	D	0.02	-5.871	14.0564	0.64772	0.0:0.0:0.0:1.0	.	267	P10912	GHR_HUMAN	R	267;245;267;80	ENSP00000230882:W267R;ENSP00000350335:W245R;ENSP00000442206:W80R	ENSP00000230882:W267R	W	+	1	0	GHR	42749302	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.792000	0.55476	2.063000	0.61619	0.482000	0.46254	TGG		0.323	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		6	69	0	0	0	1	0	6	69				
BIRC6	57448	broad.mit.edu	37	2	32715162	32715162	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:32715162G>A	ENST00000421745.2	+	43	8284	c.8150G>A	c.(8149-8151)cGg>cAg	p.R2717Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2717					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTTTGCTCCGGACATGGTGC	0.343																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(8149-8151)cGg>cAg		baculoviral IAP repeat containing 6							191.0	188.0	189.0					2																	32715162		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32715162G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8150G>A	2.37:g.32715162G>A	ENSP00000393596:p.Arg2717Gln						p.R2717Q	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			43	8284	+	Acute lymphoblastic leukemia(172;0.155)		2717					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.8150G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	32	5.150645	0.94645	.	.	ENSG00000115760	ENST00000421745	T	0.78595	-1.19	5.0	5.0	0.66597	.	0.188072	0.37906	N	0.001898	T	0.81781	0.4895	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	D	0.83894	0.0286	10	0.66056	D	0.02	.	18.6473	0.91415	0.0:0.0:1.0:0.0	.	2717	Q9NR09	BIRC6_HUMAN	Q	2717	ENSP00000393596:R2717Q	ENSP00000393596:R2717Q	R	+	2	0	BIRC6	32568666	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.536000	0.98067	2.475000	0.83589	0.591000	0.81541	CGG		0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		4	161	0	0	0	1	0	4	161				
LINGO2	158038	broad.mit.edu	37	9	27950551	27950551	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:27950551G>T	ENST00000379992.2	-	6	568	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.S40Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	40	LRRNT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		ACAGCTAACAGATTTGTTCTG	0.517																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(118-120)tCt>tAt		leucine rich repeat and Ig domain containing 2							105.0	102.0	103.0					9																	27950551		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950551G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.119C>A	9.37:g.27950551G>T	ENSP00000369328:p.Ser40Tyr					LINGO2_ENST00000308675.3_Missense_Mutation_p.S40Y	p.S40Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	568	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	40			LRRNT.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.119C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.96554	-4.05;-4.05	5.74	5.74	0.90152	Leucine-rich repeat-containing N-terminal (2);	0.054765	0.85682	D	0.000000	D	0.97561	0.9201	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	D	0.96776	0.9572	9	.	.	.	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	40	Q7L985	LIGO2_HUMAN	Y	40	ENSP00000369328:S40Y;ENSP00000310126:S40Y	.	S	-	2	0	LINGO2	27940551	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.813000	0.86123	2.873000	0.98535	0.561000	0.74099	TCT		0.517	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		21	97	1	0	1.10513e-12	1	1.15971e-12	21	97				
NUP85	79902	broad.mit.edu	37	17	73230760	73230760	+	Silent	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:73230760C>T	ENST00000245544.4	+	17	1715	c.1644C>T	c.(1642-1644)taC>taT	p.Y548Y	NUP85_ENST00000579324.1_Silent_p.Y436Y|NUP85_ENST00000541827.1_Silent_p.Y502Y|NUP85_ENST00000540768.1_Silent_p.Y151Y|NUP85_ENST00000447371.2_Silent_p.Y380Y|NUP85_ENST00000579298.1_Silent_p.Y503Y	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	548					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ACCGTATGTACGGGGAGAAGC	0.517																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(1138-1140)taC>taT		nucleoporin 85kDa							215.0	182.0	194.0					17																	73230760		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73230760C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1644C>T	17.37:g.73230760C>T						NUP85_ENST00000541827.1_Silent_p.Y502Y|NUP85_ENST00000579298.1_Silent_p.Y503Y|NUP85_ENST00000245544.4_Silent_p.Y548Y|NUP85_ENST00000540768.1_Silent_p.Y151Y|NUP85_ENST00000579324.1_Silent_p.Y436Y	p.Y380Y			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		16	1564	+	all_lung(278;0.14)|Lung NSC(278;0.168)		548					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.1140C>T	CCDS32730.1																																																																																				0.517	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		5	274	0	0	0	1	0	5	274				
ZNF25	219749	broad.mit.edu	37	10	38241241	38241241	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:38241241C>G	ENST00000302609.7	-	6	1397	c.1185G>C	c.(1183-1185)gaG>gaC	p.E395D	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGGCTTCTCTCCTGTGT	0.438																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1183-1185)gaG>gaC		zinc finger protein 25							84.0	83.0	84.0					10																	38241241		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241241C>G	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.1185G>C	10.37:g.38241241C>G	ENSP00000302222:p.Glu395Asp					ZNF25_ENST00000374633.1_5'UTR	p.E395D	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			6	1397	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	395					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.1185G>C	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211737	0.39102	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.26810	1.71	4.76	0.395	0.16304	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000594	T	0.30792	0.0776	L	0.41710	1.295	0.29750	N	0.836382	D	0.55800	0.973	P	0.57960	0.83	T	0.17048	-1.0382	10	0.72032	D	0.01	-31.3922	8.3588	0.32346	0.0:0.6256:0.0:0.3744	.	395	P17030	ZNF25_HUMAN	D	395;359	ENSP00000302222:E395D	ENSP00000302222:E395D	E	-	3	2	ZNF25	38281247	0.011000	0.17503	0.996000	0.52242	0.338000	0.28826	-0.959000	0.03853	-0.009000	0.14296	0.561000	0.74099	GAG		0.438	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		4	80	0	0	0	1	0	4	80				
GRXCR1	389207	broad.mit.edu	37	4	42895339	42895339	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr4:42895339G>A	ENST00000399770.2	+	1	56	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCGGTTTCGGATCGCGTCC	0.512																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(55-57)cGg>cAg		glutaredoxin, cysteine rich 1							112.0	120.0	117.0					4																	42895339		2020	4179	6199	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895339G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.56G>A	4.37:g.42895339G>A	ENSP00000382670:p.Arg19Gln						p.R19Q	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			1	56	+			19						Missense_Mutation	SNP	ENST00000399770.2	37	c.56G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940679	0.92526	.	.	ENSG00000215203	ENST00000399770	T	0.35048	1.33	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.57533	0.2060	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.56013	-0.8049	10	0.56958	D	0.05	-26.429	18.6831	0.91554	0.0:0.0:1.0:0.0	.	19	A8MXD5	GRCR1_HUMAN	Q	19	ENSP00000382670:R19Q	ENSP00000382670:R19Q	R	+	2	0	GRXCR1	42590096	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	9.470000	0.97683	2.649000	0.89929	0.650000	0.86243	CGG		0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		22	138	0	0	0	1	0	22	138				
MAGI3	260425	broad.mit.edu	37	1	114184787	114184787	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:114184787G>A	ENST00000307546.9	+	10	1690	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	MAGI3_ENST00000369615.1_Missense_Mutation_p.E539K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E564K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E539K	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	564					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGTTCTGGAGCAGAATGG	0.488																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1615-1617)Gag>Aag		membrane associated guanylate kinase, WW and PDZ domain containing 3							123.0	122.0	122.0					1																	114184787		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184787G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1615G>A	1.37:g.114184787G>A	ENSP00000304604:p.Glu539Lys					MAGI3_ENST00000369617.4_Missense_Mutation_p.E564K|MAGI3_ENST00000307546.9_Missense_Mutation_p.E539K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E539K	p.E539K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1677	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	564					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1615G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416188	0.42918	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.14144	2.66;2.53;2.65;2.65	5.6	4.69	0.59074	.	0.129960	0.64402	D	0.000001	T	0.04003	0.0112	N	0.24115	0.695	0.32563	N	0.530903	B;B;B	0.20052	0.041;0.001;0.004	B;B;B	0.23574	0.047;0.001;0.023	T	0.32295	-0.9912	10	0.22706	T	0.39	-18.1291	14.775	0.69724	0.0695:0.0:0.9305:0.0	.	539;539;564	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	K	564;539;539;539	ENSP00000358630:E564K;ENSP00000304604:E539K;ENSP00000358628:E539K;ENSP00000358624:E539K	ENSP00000304604:E539K	E	+	1	0	MAGI3	113986310	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.028000	0.64115	1.515000	0.48885	-0.142000	0.14014	GAG		0.488	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		7	124	0	0	0	1	0	7	124				
ADARB2	105	broad.mit.edu	37	10	1262965	1262965	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:1262965G>C	ENST00000381312.1	-	7	1933	c.1608C>G	c.(1606-1608)agC>agG	p.S536R	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	536	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTGCACTGCGCTGGGGCCAC	0.662																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1606-1608)agC>agG		adenosine deaminase, RNA-specific, B2 (non-functional)							51.0	43.0	46.0					10																	1262965		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1262965G>C	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1608C>G	10.37:g.1262965G>C	ENSP00000370713:p.Ser536Arg					ADARB2_ENST00000469464.1_5'UTR	p.S536R	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	7	1933	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	536			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1608C>G	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803839	0.31869	.	.	ENSG00000185736	ENST00000381312	D	0.93659	-3.26	5.48	-2.49	0.06403	Adenosine deaminase/editase (3);	0.628414	0.17867	N	0.159304	D	0.89385	0.6700	L	0.49126	1.545	0.09310	N	0.999999	B	0.24132	0.098	B	0.29077	0.098	T	0.78653	-0.2120	10	0.35671	T	0.21	-6.5932	12.3453	0.55118	0.17:0.1306:0.6994:0.0	.	536	Q9NS39	RED2_HUMAN	R	536	ENSP00000370713:S536R	ENSP00000370713:S536R	S	-	3	2	ADARB2	1252965	0.000000	0.05858	0.011000	0.14972	0.833000	0.47200	-0.742000	0.04850	-0.416000	0.07473	-0.458000	0.05436	AGC		0.662	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	26	0	0	0	1	0	5	26				
CHRNB4	1143	broad.mit.edu	37	15	78917350	78917350	+	3'UTR	SNP	T	T	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr15:78917350T>G	ENST00000261751.3	-	0	1733				CHRNB4_ENST00000412074.2_Missense_Mutation_p.T215P|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)						action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CTGTGGCTGGTTTGATGGGGT	0.572																																						ENST00000412074.2																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(643-645)Acc>Ccc		cholinergic receptor, nicotinic, beta 4 (neuronal)																																				SO:0001624	3_prime_UTR_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78917350T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.*125A>C	15.37:g.78917350T>G						CHRNB4_ENST00000261751.3_3'UTR	p.T215P	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN			5	754	-			0					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.643A>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	7.967	0.748270	0.15710	.	.	ENSG00000117971	ENST00000412074	T	0.77489	-1.1	3.07	0.657	0.17850	.	.	.	.	.	T	0.64227	0.2579	.	.	.	0.28889	N	0.893979	P	0.44578	0.838	B	0.38655	0.278	T	0.60747	-0.7202	8	0.87932	D	0	.	2.7342	0.05235	0.4025:0.1202:0.0:0.4772	.	215	E9PHE8	.	P	215	ENSP00000416386:T215P	ENSP00000416386:T215P	T	-	1	0	CHRNB4	76704405	0.005000	0.15991	0.054000	0.19295	0.299000	0.27559	0.981000	0.29526	0.109000	0.17891	0.533000	0.62120	ACC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			7	26	0	0	0	1	0	7	26				
USP28	57646	broad.mit.edu	37	11	113684607	113684607	+	Splice_Site	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr11:113684607C>T	ENST00000003302.4	-	15	1811	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	USP28_ENST00000545540.1_Splice_Site_p.Q456Q|USP28_ENST00000537706.1_Silent_p.Q581Q|USP28_ENST00000260188.5_Splice_Site_p.Q581Q|USP28_ENST00000544967.1_Splice_Site_p.Q289Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	581	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTCATTCTACCTGACGAAGGA	0.358																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.e15+1		ubiquitin specific peptidase 28							100.0	88.0	92.0					11																	113684607		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113684607C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1743+1G>A	11.37:g.113684607C>T						USP28_ENST00000260188.5_Splice_Site_p.Q581_splice|USP28_ENST00000545540.1_Splice_Site_p.Q456_splice|USP28_ENST00000544967.1_Splice_Site_p.Q289_splice|USP28_ENST00000537706.1_Silent_p.Q581Q	p.Q581_splice	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	15	1811	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	581					B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37	c.1743_splice	CCDS31680.1																																																																																				0.358	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Silent	3	23	0	0	0	1	0	3	23				
CHST12	55501	broad.mit.edu	37	7	2472309	2472309	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr7:2472309T>G	ENST00000258711.6	+	2	170	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	12					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.V12G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGTGGCTGGTGCTGGGGTCG	0.662																																						ENST00000258711.6																			2	Substitution - Missense(2)	p.V12G(2)	lung(2)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(34-36)gTg>gGg		carbohydrate (chondroitin 4) sulfotransferase 12							43.0	37.0	39.0					7																	2472309		2201	4299	6500	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472309T>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.35T>G	7.37:g.2472309T>G	ENSP00000258711:p.Val12Gly						p.V12G	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	170	+		Ovarian(82;0.0253)	12					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.35T>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645638	0.29246	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.68331	-0.32;0.47	5.05	-4.22	0.03800	.	0.655511	0.15128	N	0.279008	T	0.50837	0.1639	L	0.38838	1.175	0.38624	D	0.951207	B	0.28713	0.22	B	0.25140	0.058	T	0.36744	-0.9735	10	0.87932	D	0	-11.3322	11.8507	0.52410	0.0:0.3252:0.0:0.6748	.	12	Q9NRB3	CHSTC_HUMAN	G	12	ENSP00000258711:V12G;ENSP00000411207:V12G	ENSP00000258711:V12G	V	+	2	0	CHST12	2438835	0.311000	0.24536	0.103000	0.21229	0.631000	0.37964	0.672000	0.25187	-0.639000	0.05502	-0.366000	0.07423	GTG		0.662	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		7	46	0	0	0	1	0	7	46				
ARHGAP27	201176	broad.mit.edu	37	17	43474296	43474296	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:43474296G>A	ENST00000428638.1	-	11	1936	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.A305V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.A305V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A624V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.A278V|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.A424V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A619V			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	646					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATTCGGTCGCGCGTCCTCCTC	0.677																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1270-1272)gCg>gTg		Rho GTPase activating protein 27							72.0	64.0	66.0					17																	43474296		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43474296G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1937C>T	17.37:g.43474296G>A	ENSP00000403323:p.Ala646Val					ARHGAP27_ENST00000376922.2_Missense_Mutation_p.A305V|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.A619V|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.A646V|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.A624V|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.A278V|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.A305V	p.A424V			Q6ZUM4	RHG27_HUMAN			10	1406	-	Renal(3;0.0405)		646			WW 3.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1271C>T		.	.	.	.	.	.	.	.	.	.	G	10.39	1.337217	0.24253	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.08634	3.07;3.08;3.08;3.13;3.13;3.13;3.08	4.16	-0.641	0.11490	.	2.667510	0.01416	N	0.014199	T	0.05273	0.0140	N	0.10809	0.05	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.36383	-0.9750	10	0.28530	T	0.3	.	6.9517	0.24548	0.5952:0.0:0.4048:0.0	.	619;646	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	V	424;305;278;624;646;619;305	ENSP00000432762:A424V;ENSP00000366121:A305V;ENSP00000431591:A278V;ENSP00000433942:A624V;ENSP00000403323:A646V;ENSP00000409330:A619V;ENSP00000408235:A305V	ENSP00000366121:A305V	A	-	2	0	ARHGAP27	40830079	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.802000	0.04545	0.048000	0.15891	0.462000	0.41574	GCG		0.677	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		26	59	0	0	0	1	0	26	59				
MUC4	4585	broad.mit.edu	37	3	195507062	195507062	+	Missense_Mutation	SNP	C	C	T	rs199822551	byFrequency	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:195507062C>T	ENST00000463781.3	-	2	11848	c.11389G>A	c.(11389-11391)Gac>Aac	p.D3797N	MUC4_ENST00000475231.1_Missense_Mutation_p.D3797N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.607													.|||	549	0.109625	0.0575	0.1239	5008	,	,		9468	0.0556		0.2028	False		,,,				2504	0.1299					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(11389-11391)Gac>Aac		mucin 4, cell surface associated							7.0	7.0	7.0					3																	195507062		641	1482	2123	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195507062C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11389G>A	3.37:g.195507062C>T	ENSP00000417498:p.Asp3797Asn					MUC4_ENST00000475231.1_Missense_Mutation_p.D3797N|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.D3797N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	11848	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	580					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.11389G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	8.329	0.826143	0.16749	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.51;1.5	.	.	.	.	0.282130	0.14041	U	0.345384	T	0.13586	0.0329	N	0.19112	0.55	0.09310	N	0.999991	B	0.26975	0.165	B	0.06405	0.002	T	0.19516	-1.0303	8	.	.	.	.	3.5985	0.08016	2.0E-4:0.5013:0.4982:2.0E-4	.	3669	E7ESK3	.	N	3797	ENSP00000417498:D3797N;ENSP00000420243:D3797N	.	D	-	1	0	MUC4	196991841	0.000000	0.05858	0.054000	0.19295	0.055000	0.15305	0.157000	0.16402	0.064000	0.16427	0.064000	0.15345	GAC		0.607	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	2	0	0	0	1	0	2	2				
DPYD	1806	broad.mit.edu	37	1	98058845	98058845	+	Missense_Mutation	SNP	G	G	A	rs143154602		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:98058845G>A	ENST00000370192.3	-	10	1157	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	353					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GCTCCACAACGTAGAGCAGAT	0.483																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1057-1059)Cgt>Tgt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)	G	CYS/ARG	0,4406		0,0,2203	139.0	125.0	130.0		1057	3.2	0.3	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPYD	NM_000110.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	353/1026	98058845	1,13005	2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98058845G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1057C>T	1.37:g.98058845G>A	ENSP00000359211:p.Arg353Cys						p.R353C	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	10	1157	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	353					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1057C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891669	0.17613	0.0	1.16E-4	ENSG00000188641	ENST00000370192	D	0.90197	-2.63	6.17	3.18	0.36537	.	0.217179	0.48286	N	0.000183	D	0.92625	0.7657	H	0.99415	4.555	0.80722	D	1	B	0.28584	0.216	B	0.33196	0.159	D	0.89400	0.3695	10	0.66056	D	0.02	-6.0211	9.7198	0.40295	0.0717:0.2626:0.6657:0.0	.	353	Q12882	DPYD_HUMAN	C	353	ENSP00000359211:R353C	ENSP00000359211:R353C	R	-	1	0	DPYD	97831433	1.000000	0.71417	0.280000	0.24747	0.030000	0.12068	6.067000	0.71193	0.414000	0.25790	-0.176000	0.13171	CGT		0.483	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		30	89	0	0	0	1	0	30	89				
CRIM1	51232	broad.mit.edu	37	2	36691743	36691743	+	Silent	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:36691743C>T	ENST00000280527.2	+	5	1303	c.936C>T	c.(934-936)gtC>gtT	p.V312V		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	312					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCCGCATAGTCTCTCGTGGCG	0.498																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(934-936)gtC>gtT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							295.0	270.0	278.0					2																	36691743		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691743C>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.936C>T	2.37:g.36691743C>T							p.V312V	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1303	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	312					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.936C>T	CCDS1783.1																																																																																				0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		51	197	0	0	0	1	0	51	197				
DNAH9	1770	broad.mit.edu	37	17	11593460	11593460	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:11593460C>A	ENST00000262442.4	+	20	4389	c.4321C>A	c.(4321-4323)Cag>Aag	p.Q1441K	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1441K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1441	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAAGGAGCTGCAGACTACCTG	0.552																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4321-4323)Cag>Aag		dynein, axonemal, heavy chain 9							66.0	63.0	64.0					17																	11593460		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11593460C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4321C>A	17.37:g.11593460C>A	ENSP00000262442:p.Gln1441Lys					DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1441K	p.Q1441K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	20	4389	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1441			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4321C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368437	0.11352	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.59364	0.27;0.27	5.84	1.34	0.21922	Dynein heavy chain, domain-2 (1);	0.471773	0.21415	N	0.074914	T	0.22936	0.0554	N	0.01482	-0.84	0.09310	N	0.999995	B	0.06786	0.001	B	0.12837	0.008	T	0.27434	-1.0074	10	0.07175	T	0.84	.	9.382	0.38320	0.2201:0.3509:0.429:0.0	.	1441	Q9NYC9	DYH9_HUMAN	K	1441;1441;23	ENSP00000262442:Q1441K;ENSP00000414874:Q1441K	ENSP00000262442:Q1441K	Q	+	1	0	DNAH9	11534185	0.004000	0.15560	0.976000	0.42696	0.952000	0.60782	0.528000	0.23002	0.801000	0.34066	-0.175000	0.13238	CAG		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	43	1	0	0.217242	1	0.217242	6	43				
WBP11	51729	broad.mit.edu	37	12	14947617	14947617	+	Missense_Mutation	SNP	C	C	T	rs368417102		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:14947617C>T	ENST00000261167.2	-	7	808	c.575G>A	c.(574-576)cGt>cAt	p.R192H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	192	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AGGGGGCAAACGTGGAACACC	0.488																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(574-576)cGt>cAt		WW domain binding protein 11		C	HIS/ARG	0,4406		0,0,2203	70.0	77.0	75.0		575	4.5	1.0	12		75	1,8597	1.2+/-3.3	0,1,4298	no	missense	WBP11	NM_016312.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	192/642	14947617	1,13003	2203	4299	6502	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947617C>T	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.575G>A	12.37:g.14947617C>T	ENSP00000261167:p.Arg192His					WBP11_ENST00000537574.1_Missense_Mutation_p.R192H	p.R192H	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			7	808	-			192			Pro-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.575G>A	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298237	0.60195	0.0	1.16E-4	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.64537	-0.6384	9	0.48119	T	0.1	-3.474	15.0353	0.71741	0.0:1.0:0.0:0.0	.	192	Q9Y2W2	WBP11_HUMAN	H	192	.	ENSP00000261167:R192H	R	-	2	0	WBP11	14838884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.034000	0.76511	2.499000	0.84300	0.655000	0.94253	CGT		0.488	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		33	144	0	0	0	1	0	33	144				
JMJD1C	221037	broad.mit.edu	37	10	64968932	64968932	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:64968932G>A	ENST00000399262.2	-	9	2976	c.2758C>T	c.(2758-2760)Ctt>Ttt	p.L920F	JMJD1C_ENST00000399251.1_Missense_Mutation_p.L701F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L738F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L701F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	920					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGTGACTAAGTAATCCAATA	0.423																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2758-2760)Ctt>Ttt		jumonji domain containing 1C							103.0	95.0	98.0					10																	64968932		1904	4113	6017	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968932G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2758C>T	10.37:g.64968932G>A	ENSP00000382204:p.Leu920Phe					JMJD1C_ENST00000542921.1_Missense_Mutation_p.L738F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L701F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L701F	p.L920F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			9	2976	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		920					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.2758C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424899	0.83667	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.03	6.03	0.97812	.	0.070108	0.64402	D	0.000015	T	0.65964	0.2742	L	0.54323	1.7	0.45118	D	0.998134	D;D	0.67145	0.989;0.996	P;P	0.62649	0.855;0.905	T	0.64491	-0.6395	10	0.51188	T	0.08	-15.5254	15.3018	0.73958	0.0:0.0:0.8601:0.1399	.	920;738	Q15652;A0T124	JHD2C_HUMAN;.	F	920;701;701;738	ENSP00000382204:L920F;ENSP00000384990:L701F;ENSP00000382195:L701F;ENSP00000444682:L738F	ENSP00000382195:L701F	L	-	1	0	JMJD1C	64638938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.734000	0.68580	2.854000	0.98071	0.655000	0.94253	CTT		0.423	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		13	74	0	0	0	1	0	13	74				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		4	65	0	0	0	1	0	4	65				
HS3ST3A1	9955	broad.mit.edu	37	17	13399965	13399965	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:13399965A>G	ENST00000284110.1	-	2	1567	c.770T>C	c.(769-771)cTg>cCg	p.L257P	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.L55P	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	257	Substrate binding.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCGCTTGGACAGCGTCTGCGT	0.642																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(769-771)cTg>cCg		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							8.0	12.0	11.0					17																	13399965		2141	4188	6329	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13399965A>G	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.770T>C	17.37:g.13399965A>G	ENSP00000284110:p.Leu257Pro					HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.L55P	p.L257P	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1567	-		all_lung(20;0.114)	257					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.770T>C	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.029002	0.75504	.	.	ENSG00000153976	ENST00000284110	T	0.47869	0.83	5.32	4.25	0.50352	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000011	T	0.72875	0.3515	M	0.93150	3.385	0.80722	D	1	D	0.62365	0.991	D	0.68765	0.96	T	0.78770	-0.2074	10	0.62326	D	0.03	.	10.8979	0.47034	0.9242:0.0:0.0758:0.0	.	257	Q9Y663	HS3SA_HUMAN	P	257	ENSP00000284110:L257P	ENSP00000284110:L257P	L	-	2	0	HS3ST3A1	13340690	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.053000	0.64269	2.317000	0.78254	0.460000	0.39030	CTG		0.642	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		7	94	0	0	0	1	0	7	94				
IRF1	3659	broad.mit.edu	37	5	131822820	131822820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:131822820G>A	ENST00000245414.4	-	4	448	c.190C>T	c.(190-192)Cga>Tga	p.R64*	IRF1_ENST00000405885.2_Nonsense_Mutation_p.R64*|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	64					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTTTGTATCGGCCTAGAGGG	0.567																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(190-192)Cga>Tga		interferon regulatory factor 1							273.0	260.0	264.0					5																	131822820		2203	4300	6503	SO:0001587	stop_gained	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822820G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.190C>T	5.37:g.131822820G>A	ENSP00000245414:p.Arg64*					IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Nonsense_Mutation_p.R64*	p.R64*	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	4	448	-		all_cancers(142;0.026)|Breast(839;0.198)	64					Q96GG7	Nonsense_Mutation	SNP	ENST00000245414.4	37	c.190C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060522	0.93846	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	.	.	.	5.7	2.79	0.32731	.	0.051688	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.08	8.8378	0.35123	0.0748:0.0:0.5596:0.3656	.	.	.	.	X	64	.	ENSP00000245414:R64X	R	-	1	2	IRF1	131850719	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.393000	0.52544	0.745000	0.32763	-0.181000	0.13052	CGA		0.567	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		6	325	0	0	0	1	0	6	325				
TMEM198	130612	broad.mit.edu	37	2	220409504	220409504	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:220409504G>A	ENST00000344458.2	+	3	640	c.55G>A	c.(55-57)Gat>Aat	p.D19N	CHPF_ENST00000243776.6_5'Flank|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.D19N|CHPF_ENST00000373891.2_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198	19					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGAGCCAGATGATGCCTTCTG	0.592																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(55-57)Gat>Aat		transmembrane protein 198							115.0	103.0	107.0					2																	220409504		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220409504G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.55G>A	2.37:g.220409504G>A	ENSP00000343507:p.Asp19Asn					TMEM198_ENST00000373883.3_Missense_Mutation_p.D19N	p.D19N			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	640	+		Renal(207;0.0376)	19						Missense_Mutation	SNP	ENST00000344458.2	37	c.55G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229750	0.22542	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883;ENST00000451952	.	.	.	4.09	4.09	0.47781	.	0.646878	0.15218	N	0.274068	T	0.26629	0.0651	N	0.08118	0	0.33078	D	0.536263	B	0.19817	0.039	B	0.17098	0.017	T	0.26292	-1.0107	9	0.21014	T	0.42	-12.0466	11.3958	0.49841	0.0:0.3381:0.6619:0.0	.	19	Q66K66	TM198_HUMAN	N	19;19;19;105	.	ENSP00000343507:D19N	D	+	1	0	TMEM198	220117748	1.000000	0.71417	0.995000	0.50966	0.665000	0.39181	2.779000	0.47734	2.305000	0.77605	0.555000	0.69702	GAT		0.592	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		5	98	0	0	0	1	0	5	98				
SOAT1	6646	broad.mit.edu	37	1	179322747	179322747	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:179322747C>T	ENST00000367619.3	+	16	1767	c.1624C>T	c.(1624-1626)Cgt>Tgt	p.R542C	SOAT1_ENST00000540564.1_Missense_Mutation_p.R484C|SOAT1_ENST00000539888.1_Missense_Mutation_p.R477C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R278C	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	542					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGTCCGGCCACGTTCCTGGAC	0.458																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1624-1626)Cgt>Tgt		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						259.0	239.0	246.0					1																	179322747		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179322747C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1624C>T	1.37:g.179322747C>T	ENSP00000356591:p.Arg542Cys					SOAT1_ENST00000539888.1_Missense_Mutation_p.R477C|SOAT1_ENST00000540564.1_Missense_Mutation_p.R484C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R278C	p.R542C	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			16	1767	+			542					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1624C>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732142	0.89390	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.37058	1.29;1.28;1.37;1.22	5.77	4.87	0.63330	.	0.099426	0.64402	N	0.000001	T	0.61311	0.2337	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.67035	-0.5772	10	0.87932	D	0	-25.4162	12.8983	0.58111	0.0:0.9213:0.0:0.0787	.	484;542	A8K3P4;P35610	.;SOAT1_HUMAN	C	477;484;278;542	ENSP00000441356:R477C;ENSP00000445315:R484C;ENSP00000442503:R278C;ENSP00000356591:R542C	ENSP00000356591:R542C	R	+	1	0	SOAT1	177589370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.387000	0.59626	1.586000	0.49944	0.655000	0.94253	CGT		0.458	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		4	149	0	0	0	1	0	4	149				
STK32B	55351	broad.mit.edu	37	4	5461873	5461873	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr4:5461873A>G	ENST00000282908.5	+	9	1249	c.827A>G	c.(826-828)gAc>gGc	p.D276G	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.D199G|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000510398.1_Missense_Mutation_p.D229G	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AGCCTTCATGACATACAGAGC	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(826-828)gAc>gGc		serine/threonine kinase 32B							133.0	109.0	117.0					4																	5461873		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5461873A>G	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.827A>G	4.37:g.5461873A>G	ENSP00000282908:p.Asp276Gly		OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	626	STK32B_ENST00000510398.1_Missense_Mutation_p.D229G|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.D199G	p.D276G	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			9	1249	+			276			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.827A>G	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	a	10.35	1.327286	0.24080	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.26518	1.73;1.73;1.73	4.65	3.43	0.39272	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44902	U	0.000409	T	0.24812	0.0602	L	0.49778	1.585	0.45261	D	0.998262	B	0.10296	0.003	B	0.21151	0.033	T	0.05733	-1.0867	10	0.72032	D	0.01	.	10.7249	0.46061	0.8402:0.1598:0.0:0.0	.	276	Q9NY57	ST32B_HUMAN	G	276;199;229	ENSP00000282908:D276G;ENSP00000423209:D199G;ENSP00000420984:D229G	ENSP00000282908:D276G	D	+	2	0	STK32B	5512774	1.000000	0.71417	0.023000	0.16930	0.216000	0.24613	6.190000	0.72057	0.711000	0.32018	0.449000	0.29647	GAC		0.562	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		19	80	0	0	0	1	0	19	80				
XPO1	7514	broad.mit.edu	37	2	61715378	61715378	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:61715378A>C	ENST00000401558.2	-	19	2962	c.2235T>G	c.(2233-2235)atT>atG	p.I745M	XPO1_ENST00000406957.1_Missense_Mutation_p.I745M|XPO1_ENST00000404992.2_Missense_Mutation_p.I745M	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	745					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GCATACTTCTAATCAATGGTT	0.363			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2233-2235)atT>atG		exportin 1 (CRM1 homolog, yeast)							129.0	128.0	128.0					2																	61715378		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61715378A>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2235T>G	2.37:g.61715378A>C	ENSP00000384863:p.Ile745Met					XPO1_ENST00000406957.1_Missense_Mutation_p.I745M|XPO1_ENST00000404992.2_Missense_Mutation_p.I745M	p.I745M	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		19	2962	-			745					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.2235T>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.873810	0.72180	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	-0.625	0.11548	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.094585	0.64402	D	0.000001	T	0.69557	0.3124	M	0.83312	2.635	0.48571	D	0.99967	D;D	0.76494	0.997;0.999	D;D	0.80764	0.99;0.994	T	0.65257	-0.6212	9	0.56958	D	0.05	-21.0068	4.4771	0.11748	0.49:0.0:0.1322:0.3778	.	392;745	B3KWD0;O14980	.;XPO1_HUMAN	M	745	.	ENSP00000384863:I745M	I	-	3	3	XPO1	61568882	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.580000	0.36547	-0.214000	0.10078	0.482000	0.46254	ATT		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		21	83	0	0	0	1	0	21	83				
CROCC	9696	broad.mit.edu	37	1	17296411	17296411	+	Silent	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:17296411G>A	ENST00000375541.5	+	33	5502	c.5433G>A	c.(5431-5433)caG>caA	p.Q1811Q		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCGAGGGCCAGCTACAACAGC	0.662																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(5431-5433)caG>caA		ciliary rootlet coiled-coil, rootletin							51.0	47.0	48.0					1																	17296411		2202	4300	6502	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17296411G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5433G>A	1.37:g.17296411G>A							p.Q1811Q	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	33	5502	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1811						Silent	SNP	ENST00000375541.5	37	c.5433G>A	CCDS30616.1																																																																																				0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		11	65	0	0	0	1	0	11	65				
SYCE1	93426	broad.mit.edu	37	10	135369153	135369153	+	Missense_Mutation	SNP	G	G	A	rs143005509		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr10:135369153G>A	ENST00000343131.5	-	11	882	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.R224C|SYCE1_ENST00000368517.3_Missense_Mutation_p.R224C	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	260	Gln-rich.				synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		tgctggtggcgctgggcagca	0.652																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(670-672)Cgc>Tgc		synaptonemal complex central element protein 1		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	26.0	26.0	26.0		778,778,670	2.6	0.2	10	dbSNP_134	26	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	SYCE1	NM_001143763.1,NM_001143764.1,NM_130784.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	260/319,260/352,224/283	135369153	1,13003	2202	4300	6502	SO:0001583	missense	93426				cell division	central element		g.chr10:135369153G>A	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.778C>T	10.37:g.135369153G>A	ENSP00000341282:p.Arg260Cys					SYCE1_ENST00000432597.2_Missense_Mutation_p.R224C|SYCE1_ENST00000343131.5_Missense_Mutation_p.R260C|SPRN_ENST00000541506.1_Intron	p.R224C	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	808	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	260					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.670C>T	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	G	4.699	0.129920	0.08981	0.0	1.16E-4	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.32753	1.44;3.13;3.13;3.13	4.44	2.6	0.31112	.	0.867892	0.10199	N	0.703586	T	0.24736	0.0600	N	0.24115	0.695	0.09310	N	1	P;P;D	0.54772	0.734;0.734;0.968	B;B;P	0.47015	0.234;0.234;0.534	T	0.09930	-1.0652	10	0.38643	T	0.18	3.1681	8.1177	0.30953	0.0891:0.0:0.7526:0.1583	.	132;260;224	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	C	260;224;224;260	ENSP00000303978:R260C;ENSP00000411779:R224C;ENSP00000357503:R224C;ENSP00000341282:R260C	ENSP00000303978:R260C	R	-	1	0	SYCE1	135219143	0.852000	0.29690	0.189000	0.23252	0.200000	0.23975	2.046000	0.41260	0.392000	0.25172	-1.944000	0.00493	CGC		0.652	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		12	51	0	0	0	1	0	12	51				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	151	0	0	0	1	0	4	151				
BRINP1	1620	broad.mit.edu	37	9	121930093	121930093	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:121930093G>A	ENST00000265922.3	-	8	2016	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	519					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TTGCGCCACCGAGGGTCAAAG	0.567																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1555-1557)Cgg>Tgg									185.0	136.0	153.0					9																	121930093		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930093G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1555C>T	9.37:g.121930093G>A	ENSP00000265922:p.Arg519Trp					DBC1_ENST00000482797.1_Intron	p.R519W	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2016	-			519					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1555C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082387	0.55861	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15017	2.46	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.01341	-1.1380	10	0.87932	D	0	-26.8663	15.3213	0.74124	0.0:0.0:0.7967:0.2033	.	519	O60477	DBC1_HUMAN	W	519	ENSP00000265922:R519W	ENSP00000265922:R519W	R	-	1	2	DBC1	120969914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.817000	0.55668	2.702000	0.92279	0.655000	0.94253	CGG		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		8	66	0	0	0	1	0	8	66				
ORC2	4999	broad.mit.edu	37	2	201791609	201791609	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:201791609A>C	ENST00000234296.2	-	12	1181	c.932T>G	c.(931-933)aTt>aGt	p.I311S	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	311					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ATAAAGCACAATGTTGAACCC	0.358																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(931-933)aTt>aGt		origin recognition complex, subunit 2							101.0	93.0	96.0					2																	201791609		2203	4300	6503	SO:0001583	missense	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201791609A>C		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.932T>G	2.37:g.201791609A>C	ENSP00000234296:p.Ile311Ser						p.I311S	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN			12	1181	-			311					Q13204|Q53TX5	Missense_Mutation	SNP	ENST00000234296.2	37	c.932T>G	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958265	0.73902	.	.	ENSG00000115942	ENST00000234296	T	0.56103	0.48	5.37	4.18	0.49190	.	0.113304	0.64402	D	0.000009	T	0.73001	0.3531	M	0.84585	2.705	0.80722	D	1	D;D	0.61080	0.98;0.989	D;D	0.69142	0.962;0.951	T	0.77104	-0.2711	10	0.87932	D	0	-11.3415	12.5821	0.56394	0.8611:0.1389:0.0:0.0	.	311;311	B4DYU9;Q13416	.;ORC2_HUMAN	S	311	ENSP00000234296:I311S	ENSP00000234296:I311S	I	-	2	0	ORC2	201499854	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	8.891000	0.92485	0.955000	0.37878	0.377000	0.23210	ATT		0.358	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		19	77	0	0	0	1	0	19	77				
SIRPB1	10326	broad.mit.edu	37	20	1558985	1558985	+	Splice_Site	SNP	G	G	A	rs200840558	byFrequency	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr20:1558985G>A	ENST00000381605.4	-	2	496	c.432C>T	c.(430-432)cgC>cgT	p.R144R	RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144R|SIRPB1_ENST00000262929.5_Splice_Site_p.R143R|SIRPB1_ENST00000381603.3_Splice_Site_p.R144R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGTACTCACCGCGCACAGACA	0.552													A|||	3	0.000599042	0.0015	0.0	5008	,	,		18196	0.0		0.001	False		,,,				2504	0.0					ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.e2+1		signal-regulatory protein beta 1							118.0	105.0	110.0					20																	1558985		2196	4235	6431	SO:0001630	splice_region_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1558985G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.433+1C>T	20.37:g.1558985G>A						SIRPB1_ENST00000262929.5_Splice_Site_p.R143_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.R144_splice|SIRPB1_ENST00000381603.3_Splice_Site_p.R144_splice	p.R144_splice	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	496	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Splice_Site	SNP	ENST00000381605.4	37	c.433_splice	CCDS13019.1																																																																																				0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	Silent	4	160	0	0	0	1	0	4	160				
MUC17	140453	broad.mit.edu	37	7	100676716	100676716	+	Silent	SNP	G	G	A	rs200337637		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr7:100676716G>A	ENST00000306151.4	+	3	2083	c.2019G>A	c.(2017-2019)gcG>gcA	p.A673A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	673	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAACTGCGGAAGGTACCA	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2017-2019)gcG>gcA		mucin 17, cell surface associated		G		0,4406		0,0,2203	303.0	307.0	306.0		2019	0.1	0.0	7		306	1,8599		0,1,4299	no	coding-synonymous	MUC17	NM_001040105.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		673/4494	100676716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676716G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2019G>A	7.37:g.100676716G>A							p.A673A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2083	+	Lung NSC(181;0.136)|all_lung(186;0.182)		673			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2019G>A	CCDS34711.1																																																																																				0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	733	0	0	0	1	0	6	733				
KIAA0196	9897	broad.mit.edu	37	8	126052082	126052082	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr8:126052082C>T	ENST00000318410.7	-	24	3258	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.R822Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	970					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAATCAAACCGACAAGAATA	0.423																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(2908-2910)cGg>cAg		KIAA0196							76.0	72.0	73.0					8																	126052082		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126052082C>T		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2909G>A	8.37:g.126052082C>T	ENSP00000318016:p.Arg970Gln					KIAA0196_ENST00000517845.1_Missense_Mutation_p.R822Q	p.R970Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		24	3258	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		970					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2909G>A	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844996|3.844996	0.71603|0.71603	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.87491	.|-2.26;-2.26	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.104471	.|0.64402	.|N	.|0.000003	T|T	0.79690|0.79690	0.4489|0.4489	N|N	0.25485|0.25485	0.75|0.75	0.52501|0.52501	D|D	0.99995|0.99995	.|B;B	.|0.31879	.|0.005;0.344	.|B;B	.|0.28991	.|0.008;0.097	T|T	0.79680|0.79680	-0.1702|-0.1702	5|10	.|0.62326	.|D	.|0.03	-18.74|-18.74	12.8783|12.8783	0.58001|0.58001	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|822;970	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	S|Q	587|970;822	.|ENSP00000318016:R970Q;ENSP00000429676:R822Q	.|ENSP00000318016:R970Q	G|R	-|-	1|2	0|0	KIAA0196|KIAA0196	126121264|126121264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.799000|4.799000	0.62517|0.62517	2.631000|2.631000	0.89168|0.89168	0.561000|0.561000	0.74099|0.74099	GGT|CGG		0.423	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		3	48	0	0	0	1	0	3	48				
HOXB2	3212	broad.mit.edu	37	17	46622097	46622097	+	Silent	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:46622097G>A	ENST00000330070.4	-	1	1344	c.177C>T	c.(175-177)ggC>ggT	p.G59G	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000502764.2_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	59					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGGTGGAGGCGCCGGGCTGGA	0.637																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(175-177)ggC>ggT		homeobox B2							27.0	36.0	33.0					17																	46622097		2203	4299	6502	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622097G>A		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.177C>T	17.37:g.46622097G>A						HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.G59G	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1344	-			59					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.177C>T	CCDS11527.1																																																																																				0.637	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			17	75	0	0	0	1	0	17	75				
LHFPL5	222662	broad.mit.edu	37	6	35773525	35773525	+	Silent	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:35773525C>T	ENST00000373853.1	+	1	456	c.78C>T	c.(76-78)ggC>ggT	p.G26G	LHFPL5_ENST00000360215.1_Silent_p.G26G			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	26					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GAGCCGTGGGCGTGATGTGGG	0.617																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(76-78)ggC>ggT		lipoma HMGIC fusion partner-like 5							187.0	163.0	171.0					6																	35773525		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773525C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.78C>T	6.37:g.35773525C>T						LHFPL5_ENST00000373853.1_Silent_p.G26G	p.G26G	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	455	+			26					B3KX66	Silent	SNP	ENST00000373853.1	37	c.78C>T	CCDS4812.1																																																																																				0.617	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		43	171	0	0	0	1	0	43	171				
TMEM63B	55362	broad.mit.edu	37	6	44122113	44122113	+	Silent	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:44122113G>A	ENST00000259746.9	+	23	2421	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	TMEM63B_ENST00000323267.6_Silent_p.T746T			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	746					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TTGAGCACACGGAGACAGATA	0.632																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(2236-2238)acG>acA		transmembrane protein 63B							98.0	101.0	100.0					6																	44122113		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44122113G>A	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2238G>A	6.37:g.44122113G>A						TMEM63B_ENST00000323267.6_Silent_p.T746T	p.T746T			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		23	2421	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		746					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.2238G>A	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	g	8.790	0.930278	0.18131	.	.	ENSG00000137216	ENST00000371893	.	.	.	4.86	-9.27	0.00659	.	.	.	.	.	T	0.28863	0.0716	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51926	-0.8643	4	.	.	.	.	7.4698	0.27342	0.6905:0.0963:0.1162:0.097	.	.	.	.	Q	675	.	.	R	+	2	0	TMEM63B	44230091	0.001000	0.12720	0.952000	0.39060	0.967000	0.64934	-1.366000	0.02585	-1.136000	0.02892	-1.238000	0.01547	CGG		0.632	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		13	91	0	0	0	1	0	13	91				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	48	0	0	0	1	0	4	48				
RGS12	6002	broad.mit.edu	37	4	3429890	3429890	+	Silent	SNP	G	G	A	rs373758436		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr4:3429890G>A	ENST00000344733.5	+	15	4309	c.3405G>A	c.(3403-3405)tcG>tcA	p.S1135S	RGS12_ENST00000538395.1_Silent_p.S477S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.S533S|RGS12_ENST00000336727.3_Silent_p.S1135S|RGS12_ENST00000382788.3_Silent_p.S1135S|RGS12_ENST00000338806.4_Silent_p.S487S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1135					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAAACCACTCGGCTACGGTAA	0.562																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3403-3405)tcG>tcA		regulator of G-protein signaling 12		G	,,	0,4406		0,0,2203	111.0	112.0	112.0		3405,1461,3405	-2.2	0.3	4		112	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	RGS12	NM_002926.3,NM_198227.1,NM_198229.2	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	1135/1377,487/800,1135/1448	3429890	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3429890G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3405G>A	4.37:g.3429890G>A						RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.S533S|RGS12_ENST00000382788.3_Silent_p.S1135S|RGS12_ENST00000538395.1_Silent_p.S477S|RGS12_ENST00000344733.5_Silent_p.S1135S|RGS12_ENST00000338806.4_Silent_p.S487S	p.S1135S	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	4309	+			1135					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.3405G>A	CCDS3366.1																																																																																				0.562	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		4	156	0	0	0	1	0	4	156				
KRTAP10-9	386676	broad.mit.edu	37	21	46047095	46047095	+	Missense_Mutation	SNP	G	G	A	rs377104689		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr21:46047095G>A	ENST00000397911.3	+	1	56	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	3						keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCATGGCCGCGTCCACCAT	0.627																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(7-9)Gcg>Acg		keratin associated protein 10-9							66.0	78.0	74.0					21																	46047095		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047095G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.7G>A	21.37:g.46047095G>A	ENSP00000381009:p.Ala3Thr					TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR	p.A3T	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	56	+			3					A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.7G>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	5.155	0.214109	0.09810	.	.	ENSG00000221837	ENST00000397911	T	0.14391	2.51	3.67	-0.397	0.12423	.	.	.	.	.	T	0.15998	0.0385	M	0.83852	2.665	0.09310	N	1	B	0.21147	0.052	B	0.08055	0.003	T	0.29610	-1.0006	9	0.51188	T	0.08	.	3.6518	0.08206	0.3973:0.0:0.4334:0.1693	.	3	P60411	KR109_HUMAN	T	3	ENSP00000381009:A3T	ENSP00000381009:A3T	A	+	1	0	KRTAP10-9	44871523	0.000000	0.05858	0.304000	0.25085	0.003000	0.03518	-0.019000	0.12546	-0.082000	0.12640	-1.727000	0.00703	GCG		0.627	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			4	151	0	0	0	1	0	4	151				
FOS	2353	broad.mit.edu	37	14	75745726	75745726	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr14:75745726C>T	ENST00000303562.4	+	1	250	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FOS_ENST00000535987.1_Missense_Mutation_p.S14F|FOS_ENST00000555347.1_5'Flank|FOS_ENST00000555242.1_Missense_Mutation_p.S14F|FOS_ENST00000555686.1_5'Flank|FOS_ENST00000554617.1_Missense_Mutation_p.S14F|FOS_ENST00000556324.2_3'UTR	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	14					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	GAGGCGTCATCCTCCCGCTGC	0.667																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(40-42)tCc>tTc		FBJ murine osteosarcoma viral oncogene homolog							47.0	40.0	42.0					14																	75745726		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75745726C>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.41C>T	14.37:g.75745726C>T	ENSP00000306245:p.Ser14Phe					FOS_ENST00000556324.2_3'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.S14F|FOS_ENST00000535987.1_Missense_Mutation_p.S14F|FOS_ENST00000555242.1_Missense_Mutation_p.S14F	p.S14F	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	1	250	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	14					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.41C>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	36	5.655704	0.96724	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000554212;ENST00000535987;ENST00000555242	T;T;T;T	0.68624	0.13;0.39;0.5;-0.34	5.16	5.16	0.70880	.	0.064020	0.64402	D	0.000001	D	0.84224	0.5425	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.87578	0.998;0.986	D	0.86208	0.1623	10	0.87932	D	0	-3.3425	18.8171	0.92081	0.0:1.0:0.0:0.0	.	14;14	B4DQ65;P01100	.;FOS_HUMAN	F	14	ENSP00000306245:S14F;ENSP00000450519:S14F;ENSP00000442268:S14F;ENSP00000452386:S14F	ENSP00000306245:S14F	S	+	2	0	FOS	74815479	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	7.050000	0.76620	2.843000	0.97960	0.655000	0.94253	TCC		0.667	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		5	50	0	0	0	1	0	5	50				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	22	0	0	0	1	0	4	22				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	167	0	0	0	1	0	4	167				
NUMA1	4926	broad.mit.edu	37	11	71724933	71724933	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr11:71724933C>G	ENST00000393695.3	-	15	3947	c.3616G>C	c.(3616-3618)Gaa>Caa	p.E1206Q	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1206Q|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACTCATCTTCAGCCTTGCTG	0.607			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3616-3618)Gaa>Caa		nuclear mitotic apparatus protein 1							90.0	83.0	86.0					11																	71724933		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724933C>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3616G>C	11.37:g.71724933C>G	ENSP00000377298:p.Glu1206Gln					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1206Q	p.E1206Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3947	-			1206						Missense_Mutation	SNP	ENST00000393695.3	37	c.3616G>C	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290815	0.40494	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.15952	2.38;2.38	4.72	4.72	0.59763	.	0.000000	0.51477	D	0.000092	T	0.33933	0.0880	L	0.50333	1.59	0.30212	N	0.797626	D;D;D;D	0.76494	0.996;0.999;0.999;0.996	D;D;D;D	0.83275	0.97;0.994;0.996;0.97	T	0.09862	-1.0655	10	0.59425	D	0.04	.	11.8037	0.52141	0.1756:0.8244:0.0:0.0	.	1212;690;1206;1206	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	Q	1206;1206;769;175	ENSP00000351851:E1206Q;ENSP00000377298:E1206Q	ENSP00000351851:E1206Q	E	-	1	0	NUMA1	71402581	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	3.227000	0.51262	2.445000	0.82738	0.655000	0.94253	GAA		0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	126	0	0	0	1	0	9	126				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	44	0	0	0	1	0	19	44				
TRUB2	26995	broad.mit.edu	37	9	131085368	131085368	+	5'Flank	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:131085368G>A	ENST00000372890.4	-	0	0				COQ4_ENST00000300452.3_Silent_p.Q48Q|COQ4_ENST00000608951.1_Silent_p.Q48Q|COQ4_ENST00000609948.1_Silent_p.Q48Q|COQ4_ENST00000372875.3_Silent_p.Q48Q|TRUB2_ENST00000546104.1_5'Flank|TRUB2_ENST00000460320.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCCCGCTGCAGAAAGGGCTGT	0.716																																						ENST00000300452.3																			0				endometrium(4)|large_intestine(1)|lung(4)	9						c.(142-144)caG>caA		coenzyme Q4																																				SO:0001631	upstream_gene_variant	51117				ubiquinone biosynthetic process	mitochondrial inner membrane		g.chr9:131085368G>A	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741		9.37:g.131085368G>A	Exception_encountered					COQ4_ENST00000372875.3_Silent_p.Q48Q	p.Q48Q	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN			2	467	+			48					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.144G>A	CCDS6897.1																																																																																				0.716	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		5	57	0	0	0	1	0	5	57				
CRISP3	10321	broad.mit.edu	37	6	49698888	49698888	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:49698888C>T	ENST00000393666.1	-	6	604	c.598G>A	c.(598-600)Gat>Aat	p.D200N	CRISP3_ENST00000371159.4_Missense_Mutation_p.D231N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D110N|CRISP3_ENST00000433368.2_Missense_Mutation_p.D223N|CRISP3_ENST00000263045.4_Missense_Mutation_p.D213N			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	200					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CATAGTCCATCGTCACAGTTA	0.343																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(667-669)Gat>Aat		cysteine-rich secretory protein 3							102.0	94.0	97.0					6																	49698888		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49698888C>T	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.598G>A	6.37:g.49698888C>T	ENSP00000377274:p.Asp200Asn					CRISP3_ENST00000393666.1_Missense_Mutation_p.D200N|CRISP3_ENST00000263045.4_Missense_Mutation_p.D213N|CRISP3_ENST00000371159.4_Missense_Mutation_p.D231N|CRISP3_ENST00000423399.2_Missense_Mutation_p.D110N	p.D223N	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	736	-	Lung NSC(77;0.0161)		200					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.667G>A		.	.	.	.	.	.	.	.	.	.	C	0.438	-0.900216	0.02472	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.13420	3.15;3.14;3.16;2.59;3.15	4.96	2.4	0.29515	Cysteine-rich secretory protein (1);	0.259885	0.29609	U	0.011679	T	0.00998	0.0033	N	0.02736	-0.51	0.32207	N	0.5771	B	0.13145	0.007	B	0.14578	0.011	T	0.47849	-0.9085	10	0.02654	T	1	.	5.4734	0.16682	0.0:0.2802:0.0:0.7198	.	200	P54108	CRIS3_HUMAN	N	213;223;200;110;231	ENSP00000263045:D213N;ENSP00000389026:D223N;ENSP00000377274:D200N;ENSP00000410469:D110N;ENSP00000360201:D231N	ENSP00000263045:D213N	D	-	1	0	CRISP3	49806847	0.082000	0.21442	0.995000	0.50966	0.596000	0.36781	-0.139000	0.10358	0.347000	0.23924	-0.658000	0.03865	GAT		0.343	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		6	41	0	0	0	1	0	6	41				
CCDC33	80125	broad.mit.edu	37	15	74572368	74572368	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr15:74572368G>C	ENST00000398814.3	+	8	1255	c.824G>C	c.(823-825)cGa>cCa	p.R275P	CCDC33_ENST00000321288.5_Missense_Mutation_p.R478P	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	478	C2.									breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCCAAGGCCGAGATGGAGCT	0.617																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1432-1434)cGa>cCa		coiled-coil domain containing 33							42.0	46.0	45.0					15																	74572368		1947	4127	6074	SO:0001583	missense	80125						protein binding	g.chr15:74572368G>C	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.824G>C	15.37:g.74572368G>C	ENSP00000381795:p.Arg275Pro					CCDC33_ENST00000398814.3_Missense_Mutation_p.R275P	p.R478P			Q8N5R6	CCD33_HUMAN			10	1433	+			478					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.1433G>C	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730284	0.48939	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.29655	1.56;1.9	5.12	1.04	0.20106	.	0.858171	0.09758	N	0.759656	T	0.40909	0.1136	M	0.64997	1.995	0.09310	N	1	D;P	0.61697	0.99;0.873	P;P	0.55011	0.766;0.524	T	0.23297	-1.0192	10	0.72032	D	0.01	.	5.3409	0.15982	0.2506:0.146:0.6034:0.0	.	478;275	C9JFX2;Q8N5R6-6	.;.	P	478;275	ENSP00000325012:R478P;ENSP00000381795:R275P	ENSP00000325012:R478P	R	+	2	0	CCDC33	72359421	0.972000	0.33761	0.063000	0.19743	0.910000	0.53928	1.143000	0.31553	-0.055000	0.13244	-0.224000	0.12420	CGA		0.617	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		3	43	0	0	0	1	0	3	43				
PPFIA2	8499	broad.mit.edu	37	12	81719626	81719626	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:81719626C>T	ENST00000549396.1	-	22	2732	c.2572G>A	c.(2572-2574)Gca>Aca	p.A858T	PPFIA2_ENST00000549325.1_Missense_Mutation_p.A840T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A75T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A840T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A759T|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A858T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A705T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A784T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A425T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A858T	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	858					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTGAGCTGCAGCTTCAGTC	0.423																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2572-2574)Gca>Aca		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							70.0	70.0	70.0					12																	81719626		1860	4108	5968	SO:0001583	missense	8499							g.chr12:81719626C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2572G>A	12.37:g.81719626C>T	ENSP00000450337:p.Ala858Thr					PPFIA2_ENST00000407050.4_Missense_Mutation_p.A784T|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A75T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A425T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A759T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A840T|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A840T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A858T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A705T	p.A858T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			21	2867	-			784					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2572G>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.615|9.615	1.132263|1.132263	0.21041|0.21041	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	T;T;T;T;T;T;T;T;T|.	0.30182|.	2.29;2.28;1.98;1.54;1.96;2.29;2.29;1.97;2.28|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.190717|.	0.44688|.	D|.	0.000425|.	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.14661|0.14661	0.345|0.345	0.52099|0.52099	D|D	0.99994|0.99994	B|.	0.30406|.	0.278|.	B|.	0.22386|.	0.039|.	T|T	0.44787|0.44787	-0.9305|-0.9305	10|5	0.27082|.	T|.	0.32|.	-18.6651|-18.6651	18.8911|18.8911	0.92403|0.92403	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858|.	O75334|.	LIPA2_HUMAN|.	T|Y	858;840;425;75;784;869;840;858;759;858|20	ENSP00000450337:A858T;ENSP00000450298:A840T;ENSP00000438337:A425T;ENSP00000445532:A75T;ENSP00000385093:A784T;ENSP00000327416:A840T;ENSP00000449338:A858T;ENSP00000388373:A759T;ENSP00000447868:A858T|.	ENSP00000327416:A840T|.	A|C	-|-	1|2	0|0	PPFIA2|PPFIA2	80243757|80243757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.646000|5.646000	0.67916|0.67916	2.747000|2.747000	0.94245|0.94245	0.585000|0.585000	0.79938|0.79938	GCA|TGC		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			5	30	0	0	0	1	0	5	30				
ASAP2	8853	broad.mit.edu	37	2	9519164	9519164	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr2:9519164C>T	ENST00000281419.3	+	19	2264	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	ASAP2_ENST00000315273.4_Missense_Mutation_p.R642W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	642					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGCTCCTGCGGGGGAAGGC	0.652																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1924-1926)Cgg>Tgg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							49.0	45.0	46.0					2																	9519164		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9519164C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1924C>T	2.37:g.9519164C>T	ENSP00000281419:p.Arg642Trp					ASAP2_ENST00000315273.4_Missense_Mutation_p.R642W	p.R642W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			19	2264	+			642					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1924C>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098720	0.56183	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.65364	-0.15;-0.15	5.67	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.098933	0.64402	D	0.000003	T	0.81814	0.4902	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.85317	0.1082	10	0.87932	D	0	.	15.739	0.77870	0.1828:0.8172:0.0:0.0	.	642;642	O43150-2;O43150	.;ASAP2_HUMAN	W	642	ENSP00000281419:R642W;ENSP00000316404:R642W	ENSP00000281419:R642W	R	+	1	2	ASAP2	9436615	1.000000	0.71417	0.783000	0.31826	0.360000	0.29518	1.029000	0.30140	2.684000	0.91462	0.650000	0.86243	CGG		0.652	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		9	41	0	0	0	1	0	9	41				
PRDM9	56979	broad.mit.edu	37	5	23509593	23509593	+	Silent	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:23509593C>T	ENST00000296682.3	+	3	266	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	28	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGATGCCTTCAAAGACATTT	0.428										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(82-84)ttC>ttT		PR domain containing 9							188.0	179.0	182.0					5																	23509593		1867	4110	5977	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509593C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.84C>T	5.37:g.23509593C>T		HNSCC(3;0.000094)					p.F28F	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			3	266	+			28			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.84C>T	CCDS43307.1																																																																																				0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		33	168	0	0	0	1	0	33	168				
ACSS2	55902	broad.mit.edu	37	20	33508832	33508832	+	Silent	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr20:33508832G>A	ENST00000360596.2	+	10	1378	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.P402P|ACSS2_ENST00000336325.4_Silent_p.P339P	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	389					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACATATCCGGACGTGAACC	0.507																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1165-1167)ccG>ccA		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						183.0	173.0	176.0					20																	33508832		2203	4300	6503	SO:0001819	synonymous_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33508832G>A	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1167G>A	20.37:g.33508832G>A						ACSS2_ENST00000336325.4_Silent_p.P339P|ACSS2_ENST00000253382.5_Silent_p.P402P|ACSS2_ENST00000476922.1_Intron	p.P389P	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			10	1378	+			389					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	ENST00000360596.2	37	c.1167G>A	CCDS13243.1																																																																																				0.507	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		11	195	0	0	0	1	0	11	195				
FEM1C	56929	broad.mit.edu	37	5	114878763	114878763	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:114878763T>C	ENST00000274457.3	-	2	989	c.428A>G	c.(427-429)gAa>gGa	p.E143G		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	143					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GTTTGACACTTCCAAATCAGC	0.403																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(427-429)gAa>gGa		fem-1 homolog c (C. elegans)							128.0	126.0	127.0					5																	114878763		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114878763T>C		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.428A>G	5.37:g.114878763T>C	ENSP00000274457:p.Glu143Gly						p.E143G	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	2	989	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	143					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.428A>G	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892146	0.91889	.	.	ENSG00000145780	ENST00000274457	T	0.71698	-0.59	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	L	0.33668	1.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78443	-0.2202	10	0.49607	T	0.09	-23.6492	15.6216	0.76810	0.0:0.0:0.0:1.0	.	143	Q96JP0	FEM1C_HUMAN	G	143	ENSP00000274457:E143G	ENSP00000274457:E143G	E	-	2	0	FEM1C	114906662	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.993000	0.88291	2.092000	0.63282	0.477000	0.44152	GAA		0.403	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		4	121	0	0	0	1	0	4	121				
HTR1B	3351	broad.mit.edu	37	6	78172192	78172192	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr6:78172192C>T	ENST00000369947.2	-	1	1298	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	310					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTGGCTTTGCGCTCCCTAGC	0.522																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(928-930)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						172.0	175.0	174.0					6																	78172192		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172192C>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.929G>A	6.37:g.78172192C>T	ENSP00000358963:p.Arg310His						p.R310H	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1298	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	310					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.929G>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084919	0.76642	.	.	ENSG00000135312	ENST00000369947	T	0.73681	-0.77	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.78690	-0.2106	9	.	.	.	.	18.1467	0.89659	0.0:1.0:0.0:0.0	.	310	P28222	5HT1B_HUMAN	H	310	ENSP00000358963:R310H	.	R	-	2	0	HTR1B	78228911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.798000	0.55522	2.767000	0.95098	0.561000	0.74099	CGC		0.522	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		5	306	0	0	0	1	0	5	306				
RACGAP1	29127	broad.mit.edu	37	12	50395035	50395035	+	Splice_Site	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:50395035G>A	ENST00000427314.2	-	9	773	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	RACGAP1_ENST00000547905.1_Splice_Site_p.R184C|RACGAP1_ENST00000434422.1_Splice_Site_p.R184C|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Splice_Site_p.R184C|RACGAP1_ENST00000312377.5_Splice_Site_p.R184C|RACGAP1_ENST00000551016.1_Splice_Site_p.R184C	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTAGTAGAGCGCTAGAAAGGA	0.458																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.e8-1		Rac GTPase activating protein 1							55.0	56.0	56.0					12																	50395035		2203	4300	6503	SO:0001630	splice_region_variant	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50395035G>A		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.550-1C>T	12.37:g.50395035G>A						RACGAP1_ENST00000312377.5_Splice_Site_p.R184_splice|RACGAP1_ENST00000547905.1_Splice_Site_p.R184_splice|RACGAP1_ENST00000454520.2_Splice_Site_p.R184_splice|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000551016.1_Splice_Site_p.R184_splice|RACGAP1_ENST00000427314.2_Splice_Site_p.R184_splice	p.R184_splice			Q9H0H5	RGAP1_HUMAN			8	851	-			184			Interaction with SLC26A8.			Splice_Site	SNP	ENST00000427314.2	37	c.549_splice	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459897	0.63401	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595	T;T;T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.55103	1.725	0.80722	D	1	B	0.33904	0.431	B	0.22601	0.04	T	0.67658	-0.5614	10	0.56958	D	0.05	-7.9015	18.2003	0.89836	0.0:0.0:1.0:0.0	.	184	Q9H0H5	RGAP1_HUMAN	C	184;184;184;184;184;184;184;110;110;126	ENSP00000404190:R184C;ENSP00000309871:R184C;ENSP00000413241:R184C;ENSP00000404808:R184C;ENSP00000449374:R184C;ENSP00000449370:R184C;ENSP00000448697:R184C;ENSP00000446642:R110C;ENSP00000447429:R110C;ENSP00000449963:R126C	ENSP00000309871:R184C	R	-	1	0	RACGAP1	48681302	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.961000	0.76042	2.718000	0.92993	0.655000	0.94253	CGC		0.458	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277	Missense_Mutation	3	41	0	0	0	1	0	3	41				
FBXW12	285231	broad.mit.edu	37	3	48415161	48415161	+	Silent	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:48415161G>A	ENST00000296438.5	+	4	438	c.252G>A	c.(250-252)ccG>ccA	p.P84P	FBXW12_ENST00000415155.1_Silent_p.P84P|FBXW12_ENST00000445170.1_Silent_p.P65P|FBXW12_ENST00000436231.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	84										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGCACAGCCGCATAACTTTA	0.448																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(250-252)ccG>ccA		F-box and WD repeat domain containing 12							109.0	105.0	107.0					3																	48415161		2203	4300	6503	SO:0001819	synonymous_variant	285231							g.chr3:48415161G>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.252G>A	3.37:g.48415161G>A						FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Silent_p.P84P|FBXW12_ENST00000445170.1_Silent_p.P65P	p.P84P	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	438	+			84					E9PG36|Q494Y9|Q494Z0	Silent	SNP	ENST00000296438.5	37	c.252G>A	CCDS2764.1																																																																																				0.448	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		4	81	0	0	0	1	0	4	81				
APEH	327	broad.mit.edu	37	3	49721622	49721622	+	IGR	SNP	C	C	T	rs200268600		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:49721622C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Splice_Site_p.G673S|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.e18-1		macrophage stimulating 1 (hepatocyte growth factor-like)							19.0	19.0	19.0					3																	49721622		2202	4294	6496	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49721622C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721622C>T							p.G673_splice	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	18	2378	-			659			Peptidase S1.		Q9BQ33|Q9P0Y2	Splice_Site	SNP	ENST00000296456.5	37	c.2016_splice	CCDS2801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.733873|4.733873	0.89482|0.89482	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97924	.|-4.61	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.43260|0.43260	D|D	0.000594|0.000594	D|D	0.98893|0.98893	0.9625|0.9625	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	D|D	0.99593|0.99593	1.0976|1.0976	6|10	.|0.66056	.|D	.|0.02	.|.	19.5863|19.5863	0.95490|0.95490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|G3XAK1	.|.	E|S	142|673	.|ENSP00000414287:G673S	.|ENSP00000414287:G673S	G|G	-|-	2|1	0|0	MST1|MST1	49696626|49696626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.520000|4.520000	0.60524|0.60524	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	40	0	0	0	1	0	4	40				
EIF4G3	8672	broad.mit.edu	37	1	21205843	21205843	+	Silent	SNP	G	G	A	rs542108090		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:21205843G>A	ENST00000264211.8	-	14	2621	c.2427C>T	c.(2425-2427)taC>taT	p.Y809Y	EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y|EIF4G3_ENST00000602326.1_Silent_p.Y815Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATGTTTGCGTAAGCCACAG	0.443																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2443-2445)taC>taT		eukaryotic translation initiation factor 4 gamma, 3							169.0	167.0	167.0					1																	21205843		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21205843G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2427C>T	1.37:g.21205843G>A						EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y	p.Y815Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	18	3028	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	809			MIF4G.|eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.2445C>T	CCDS214.1																																																																																				0.443	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		5	194	0	0	0	1	0	5	194				
FGFR1OP2	26127	broad.mit.edu	37	12	27116352	27116352	+	Silent	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:27116352G>A	ENST00000229395.3	+	6	930	c.588G>A	c.(586-588)caG>caA	p.Q196Q	FGFR1OP2_ENST00000327214.5_Silent_p.Q158Q	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	196					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					ACGAGCAACAGGGTTGCAAGG	0.373																																						ENST00000229395.3																			0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(586-588)caG>caA		FGFR1 oncogene partner 2							79.0	73.0	75.0					12																	27116352		2203	4300	6503	SO:0001819	synonymous_variant	26127					cytoplasm		g.chr12:27116352G>A	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.588G>A	12.37:g.27116352G>A						FGFR1OP2_ENST00000327214.5_Silent_p.Q158Q	p.Q196Q	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			6	930	+	Colorectal(261;0.0847)		196					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Silent	SNP	ENST00000229395.3	37	c.588G>A	CCDS8709.1																																																																																				0.373	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		8	57	0	0	0	1	0	8	57				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	109	0	0	0	1	0	4	109				
FLG	2312	broad.mit.edu	37	1	152284304	152284304	+	Missense_Mutation	SNP	A	A	C			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:152284304A>C	ENST00000368799.1	-	3	3093	c.3058T>G	c.(3058-3060)Tca>Gca	p.S1020A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1020	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGGATGACGCAGCCTGT	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3058-3060)Tca>Gca		filaggrin							345.0	344.0	344.0					1																	152284304		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284304A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3058T>G	1.37:g.152284304A>C	ENSP00000357789:p.Ser1020Ala					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1020A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3093	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1020			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3058T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	6.586	0.476551	0.12521	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00922	5.54	3.3	-1.03	0.10102	.	.	.	.	.	T	0.00440	0.0014	M	0.77616	2.38	0.09310	N	1	B	0.27286	0.174	B	0.27262	0.078	T	0.43988	-0.9357	9	0.34782	T	0.22	.	0.5392	0.00642	0.4416:0.2166:0.1311:0.2107	.	1020	P20930	FILA_HUMAN	A	1020;227	ENSP00000357789:S1020A	ENSP00000357789:S1020A	S	-	1	0	FLG	150550928	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.467000	0.06664	-0.428000	0.07339	0.249000	0.18162	TCA		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		23	748	0	0	0	1	0	23	748				
ATP7A	538	broad.mit.edu	37	X	77275824	77275824	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chrX:77275824G>A	ENST00000341514.6	+	13	2865	c.2710G>A	c.(2710-2712)Gca>Aca	p.A904T	ATP7A_ENST00000343533.5_Missense_Mutation_p.A826T|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	904					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCTTATCTGCGCAACACATGT	0.463																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(2710-2712)Gca>Aca		ATPase, Cu++ transporting, alpha polypeptide							118.0	100.0	106.0					X																	77275824		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77275824G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2710G>A	X.37:g.77275824G>A	ENSP00000345728:p.Ala904Thr					ATP7A_ENST00000343533.5_Missense_Mutation_p.A826T|ATP7A_ENST00000350425.4_Intron	p.A904T	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			13	2865	+			904					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2710G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390072	0.82902	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.91011	-2.77;-2.77	5.83	5.83	0.93111	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053482	0.85682	D	0.000000	D	0.94561	0.8248	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94821	0.7987	10	0.87932	D	0	2.0453	19.0714	0.93138	0.0:0.0:1.0:0.0	.	904	Q04656	ATP7A_HUMAN	T	826;904	ENSP00000343026:A826T;ENSP00000345728:A904T	ENSP00000345728:A904T	A	+	1	0	ATP7A	77162480	1.000000	0.71417	0.944000	0.38274	0.164000	0.22412	9.818000	0.99354	2.454000	0.82982	0.544000	0.68410	GCA		0.463	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		4	85	0	0	0	1	0	4	85				
ANO8	57719	broad.mit.edu	37	19	17441719	17441719	+	Missense_Mutation	SNP	C	C	T	rs368368418		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr19:17441719C>T	ENST00000159087.4	-	8	1069	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	304					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGCCCCTCTCCGCTTCCATTC	0.597																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(910-912)cGg>cAg		anoctamin 8		C	GLN/ARG	0,4406		0,0,2203	165.0	159.0	161.0		911	3.5	1.0	19		161	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANO8	NM_020959.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	304/1233	17441719	1,13005	2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17441719C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.911G>A	19.37:g.17441719C>T	ENSP00000159087:p.Arg304Gln						p.R304Q	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			8	1069	-			304					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.911G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	c	24.5	4.542830	0.86022	0.0	1.16E-4	ENSG00000074855	ENST00000159087	T	0.72051	-0.62	4.59	3.55	0.40652	.	0.118551	0.53938	D	0.000058	T	0.80602	0.4654	M	0.69185	2.1	0.37741	D	0.925626	D	0.89917	1.0	D	0.87578	0.998	T	0.82782	-0.0287	10	0.66056	D	0.02	.	10.5248	0.44941	0.0:0.9019:0.0:0.0981	.	304	Q9HCE9	ANO8_HUMAN	Q	304	ENSP00000159087:R304Q	ENSP00000159087:R304Q	R	-	2	0	ANO8	17302719	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.872000	0.63050	0.923000	0.37045	0.306000	0.20318	CGG		0.597	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		45	253	0	0	0	1	0	45	253				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	20	0	0	0	1	0	3	20				
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083|rs371488778|rs113330492|rs45454392|rs67610340	byFrequency	TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.15_15L>LL	PCSK9_ENST00000543384.1_5'Flank|PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	15					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(40-45)cctgct>ccCTGtgct		proprotein convertase subtilisin/kexin type 9																																				SO:0001652	inframe_insertion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505552_55505553insCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.61_63dupCTG	1.37:g.55505559_55505561dupCTG	ENSP00000303208:p.Leu23dup					PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	332_333	+			14					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Ins	INS	ENST00000302118.5	37	c.42_43insCTG	CCDS603.1																																																																																				0.703	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		4	6						4	6	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			645548							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		2	4						2	4	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150891893	150891894	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr5:150891893_150891894insGG	ENST00000261800.5	-	20	11749_11750	c.11737_11738insCC	c.(11737-11739)ctgfs	p.L3913fs	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3913	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACAGCATCCAGGCAGCCTTCA	0.599																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11737-11739)ggafs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150891893_150891894insGG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11736_11737dupCC	5.37:g.150891894_150891895dupGG	ENSP00000261800:p.Leu3913fs					CTC-251D13.1_ENST00000606930.1_RNA	p.G3913fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11749_11750	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3913			Laminin G-like.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.11737_11738insCC	CCDS4317.1																																																																																				0.599	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		32	110						32	110	---	---	---	---
FAM157B	100132403	broad.mit.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						ENST00000446912.2																			0																																																			100132403							g.chr9:141107536_141107537insGCA			9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA										P0CG42	F157B_HUMAN			0	19_20	+									RNA	INS	ENST00000446912.2	37																																																																																						0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000055378.2	NM_001145249		2	4						2	4	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H7-A6C4-01A-11D-A30E-08	TCGA-H7-A6C4-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	464a456c-1c0b-4207-a0be-26778bb69fc7	ea5338b2-979a-4617-8482-b821d0d28014	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		13	141						13	141	---	---	---	---
