#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
MTMR2	8898	broad.mit.edu	37	11	95571268	95571268	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:95571268C>G	ENST00000346299.5	-	13	1923	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	MTMR2_ENST00000393223.3_Missense_Mutation_p.R456T|RNA5SP345_ENST00000410646.1_RNA|MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	528	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCTTTTCCTCTCTGTTGTTC	0.368																																						ENST00000393223.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19						c.(1366-1368)aGa>aCa		myotubularin related protein 2							136.0	131.0	133.0					11																	95571268		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95571268C>G	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1583G>C	11.37:g.95571268C>G	ENSP00000345752:p.Arg528Thr					MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T	p.R456T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN			15	2029	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	528			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1367G>C	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275015	0.80580	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.52	5.52	0.82312	Myotubularin phosphatase domain (1);	0.043659	0.85682	D	0.000000	D	0.98713	0.9568	H	0.99573	4.635	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.98908	1.0779	10	0.87932	D	0	.	12.7458	0.57280	0.0:0.9251:0.0:0.0749	.	528	Q13614	MTMR2_HUMAN	T	528;456;456;456;456	ENSP00000345752:R528T;ENSP00000376915:R456T;ENSP00000386882:R456T;ENSP00000343737:R456T;ENSP00000396020:R456T	ENSP00000345752:R528T	R	-	2	0	MTMR2	95210916	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.671000	0.61590	2.599000	0.87857	0.563000	0.77884	AGA		0.368	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		6	53	0	0	0	1	0	6	53				
PLCXD1	55344	broad.mit.edu	37	X	215818	215818	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chrX:215818C>T	ENST00000381657.2	+	7	1302	c.788C>T	c.(787-789)gCg>gTg	p.A263V	PLCXD1_ENST00000399012.1_Missense_Mutation_p.A263V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A263V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	263					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACGTTCTGGCGCACCCGTCC	0.667																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(787-789)gCg>gTg		phosphatidylinositol-specific phospholipase C, X domain containing 1		C	VAL/ALA	0,4406		0,0,2203	124.0	108.0	114.0		788	-0.2	0.2	X		114	1,8591		0,1,4295	no	missense	PLCXD1	NM_018390.3	64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	263/324	215818	1,12997	2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215818C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.788C>T	X.37:g.215818C>T	ENSP00000371073:p.Ala263Val					PLCXD1_ENST00000399012.1_Missense_Mutation_p.A263V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A263V	p.A263V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			7	1302	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	263					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.788C>T	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	5.464	0.270589	0.10349	0.0	1.16E-4	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.29917	1.55;1.55;1.55	1.94	-0.148	0.13424	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.926968	0.09164	N	0.839743	T	0.14743	0.0356	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.35500	-0.9786	9	0.13470	T	0.59	-14.9793	6.0164	0.19605	0.0:0.5333:0.0:0.4667	.	263	Q9NUJ7	PLCX1_HUMAN	V	263	ENSP00000381976:A263V;ENSP00000371073:A263V;ENSP00000371079:A263V	ENSP00000371073:A263V	A	+	2	0	PLCXD1	155818	0.241000	0.23857	0.156000	0.22583	0.552000	0.35366	0.551000	0.23361	-0.278000	0.09180	0.414000	0.27820	GCG		0.667	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		6	18	0	0	0	1	0	6	18				
KDM1A	23028	broad.mit.edu	37	1	23376958	23376958	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:23376958T>C	ENST00000356634.3	+	3	745	c.596T>C	c.(595-597)aTt>aCt	p.I199T	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.I219T|KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	199	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTCCAGATATTATCAGTGGA	0.433																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(655-657)aTt>aCt		lysine (K)-specific demethylase 1A							142.0	135.0	138.0					1																	23376958		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23376958T>C	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.596T>C	1.37:g.23376958T>C	ENSP00000349049:p.Ile199Thr					RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T	p.I219T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			4	760	+			199			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.656T>C	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771344	0.90108	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.35236	1.41;1.32;1.33	5.82	5.82	0.92795	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.046009	0.85682	D	0.000000	T	0.57814	0.2079	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.53982	-0.8361	10	0.20519	T	0.43	-12.113	15.3729	0.74581	0.0:0.0:0.0:1.0	.	219;199	O60341-2;O60341	.;KDM1A_HUMAN	T	199;219;219	ENSP00000349049:I199T;ENSP00000383042:I219T;ENSP00000439072:I219T	ENSP00000349049:I199T	I	+	2	0	KDM1A	23249545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.999000	0.88496	2.216000	0.71823	0.533000	0.62120	ATT		0.433	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		5	44	0	0	0	1	0	5	44				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	99	0	0	0	1	0	5	99				
KCNC1	3746	broad.mit.edu	37	11	17793787	17793787	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:17793787G>A	ENST00000379472.3	+	2	1176	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	KCNC1_ENST00000265969.6_Silent_p.T382T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	382					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.T382T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GTGAGCACACGCACTTTAAGA	0.602																																						ENST00000379472.3																			1	Substitution - coding silent(1)	p.T382T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1144-1146)acG>acA		potassium voltage-gated channel, Shaw-related subfamily, member 1							82.0	79.0	80.0					11																	17793787		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793787G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1146G>A	11.37:g.17793787G>A						KCNC1_ENST00000265969.6_Silent_p.T382T	p.T382T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1176	+			382					K4DI87	Silent	SNP	ENST00000379472.3	37	c.1146G>A	CCDS7827.1																																																																																				0.602	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		3	37	0	0	0	1	0	3	37				
CDC7	8317	broad.mit.edu	37	1	91977213	91977213	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:91977213T>C	ENST00000428239.1	+	5	654	c.395T>C	c.(394-396)aTt>aCt	p.I132T	CDC7_ENST00000234626.6_Missense_Mutation_p.I132T|CDC7_ENST00000430031.2_Missense_Mutation_p.I104T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CATGTAGTTATTGCTATGCCA	0.323																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(394-396)aTt>aCt		cell division cycle 7							208.0	209.0	208.0					1																	91977213		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91977213T>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.395T>C	1.37:g.91977213T>C	ENSP00000393139:p.Ile132Thr					CDC7_ENST00000430031.2_Missense_Mutation_p.I104T|CDC7_ENST00000234626.6_Missense_Mutation_p.I132T	p.I132T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	5	654	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	132			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.395T>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.232316	0.79688	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81920	-0.0712	10	0.66056	D	0.02	-13.2553	16.1082	0.81241	0.0:0.0:0.0:1.0	.	104;132	B7Z5H7;O00311	.;CDC7_HUMAN	T	104;132;132;132	ENSP00000407477:I104T;ENSP00000234626:I132T;ENSP00000393139:I132T;ENSP00000398077:I132T	ENSP00000234626:I132T	I	+	2	0	CDC7	91749801	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.303000	0.78871	2.205000	0.71048	0.482000	0.46254	ATT		0.323	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		5	82	0	0	0	1	0	5	82				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		4	22	0	0	0	1	0	4	22				
FAM155A	728215	broad.mit.edu	37	13	108518235	108518235	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr13:108518235C>T	ENST00000375915.2	-	1	848	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	237						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACTGGACAACCCCGAGAACAA	0.537																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(709-711)gGg>gAg		family with sequence similarity 155, member A							124.0	121.0	122.0					13																	108518235		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518235C>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.710G>A	13.37:g.108518235C>T	ENSP00000365080:p.Gly237Glu						p.G237E	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	848	-			237					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.710G>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758222	0.69763	.	.	ENSG00000204442	ENST00000375915	T	0.13089	2.62	5.9	5.03	0.67393	.	0.060839	0.64402	D	0.000005	T	0.28001	0.0690	L	0.38838	1.175	0.49915	D	0.999833	D	0.89917	1.0	D	0.79784	0.993	T	0.01413	-1.1361	10	0.48119	T	0.1	.	15.2876	0.73838	0.141:0.859:0.0:0.0	.	237	B1AL88	F155A_HUMAN	E	237	ENSP00000365080:G237E	ENSP00000365080:G237E	G	-	2	0	FAM155A	107316236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	1.434000	0.47414	0.563000	0.77884	GGG		0.537	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		3	49	0	0	0	1	0	3	49				
CELSR2	1952	broad.mit.edu	37	1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:109801533C>T	ENST00000271332.3	+	2	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1264	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGCTCTTCCGGCCCATCCA	0.697																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3790-3792)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							32.0	30.0	31.0					1																	109801533		2201	4299	6500	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801533C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3790C>T	1.37:g.109801533C>T	ENSP00000271332:p.Arg1264Trp						p.R1264W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3851	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1264			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3790C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753540	0.49362	.	.	ENSG00000143126	ENST00000271332	T	0.54866	0.55	4.68	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.63943	0.2554	M	0.84511	2.7	0.49687	D	0.999818	D	0.89917	1.0	D	0.70935	0.971	T	0.69569	-0.5110	9	0.72032	D	0.01	.	10.6776	0.45796	0.0:0.8421:0.0:0.1579	.	1264	Q9HCU4	CELR2_HUMAN	W	1264	ENSP00000271332:R1264W	ENSP00000271332:R1264W	R	+	1	2	CELSR2	109603056	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	2.285000	0.43487	0.709000	0.31976	-0.251000	0.11542	CGG		0.697	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	17	0	0	0	1	0	3	17				
ATP6V0D2	245972	broad.mit.edu	37	8	87126109	87126109	+	Splice_Site	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr8:87126109C>T	ENST00000285393.3	+	2	444	c.302C>T	c.(301-303)aCg>aTg	p.T101M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	101					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.T101M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACCTATATGACGTAAGTGATG	0.453																																						ENST00000285393.3																			1	Substitution - Missense(1)	p.T101M(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.e2+1		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							90.0	91.0	91.0					8																	87126109		2203	4300	6503	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87126109C>T	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.302+1C>T	8.37:g.87126109C>T						CTD-3118D11.2_ENST00000522679.1_RNA	p.T101_splice	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			2	444	+			101						Splice_Site	SNP	ENST00000285393.3	37	c.302_splice	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097648	0.76870	.	.	ENSG00000147614	ENST00000285393	T	0.33654	1.4	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76694	-0.2865	10	0.87932	D	0	-2.781	16.8197	0.85742	0.0:1.0:0.0:0.0	.	101	Q8N8Y2	VA0D2_HUMAN	M	101	ENSP00000285393:T101M	ENSP00000285393:T101M	T	+	2	0	ATP6V0D2	87195225	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	6.044000	0.71012	2.839000	0.97877	0.644000	0.83932	ACG		0.453	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Missense_Mutation	6	77	0	0	0	1	0	6	77				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		3	54	0	0	0	1	0	3	54				
RSPO3	84870	broad.mit.edu	37	6	127469958	127469958	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr6:127469958G>C	ENST00000356698.4	+	2	852	c.263G>C	c.(262-264)cGa>cCa	p.R88P	RSPO3_ENST00000368317.3_Missense_Mutation_p.R88P|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	88					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(262-264)cGa>cCa		R-spondin 3							125.0	119.0	121.0					6																	127469958		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127469958G>C	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.263G>C	6.37:g.127469958G>C	ENSP00000349131:p.Arg88Pro					RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.R88P	p.R88P	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	2	852	+			88					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.263G>C	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841545	0.91197	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.90676	-2.71;-2.71	5.73	5.73	0.89815	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.93061	0.7791	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93324	0.6695	10	0.72032	D	0.01	-15.5343	19.9155	0.97058	0.0:0.0:1.0:0.0	.	88;88	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	P	88	ENSP00000349131:R88P;ENSP00000357300:R88P	ENSP00000349131:R88P	R	+	2	0	RSPO3	127511651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.699000	0.92147	0.650000	0.86243	CGA		0.363	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		3	61	0	0	0	1	0	3	61				
IGSF10	285313	broad.mit.edu	37	3	151164494	151164494	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr3:151164494G>A	ENST00000282466.3	-	4	3274	c.3275C>T	c.(3274-3276)gCt>gTt	p.A1092V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1092					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATGTCAGCTTTGGGGAA	0.483																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3274-3276)gCt>gTt		immunoglobulin superfamily, member 10							138.0	141.0	140.0					3																	151164494		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164494G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3275C>T	3.37:g.151164494G>A	ENSP00000282466:p.Ala1092Val						p.A1092V	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3274	-			1092					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3275C>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	5.226	0.227108	0.09916	.	.	ENSG00000152580	ENST00000282466	T	0.68181	-0.31	5.46	4.47	0.54385	.	0.554242	0.15183	N	0.276013	T	0.48447	0.1500	L	0.29908	0.895	0.09310	N	1	B	0.24721	0.11	B	0.23150	0.044	T	0.22243	-1.0222	10	0.16896	T	0.51	.	6.2437	0.20805	0.1197:0.0:0.6382:0.2421	.	1092	Q6WRI0	IGS10_HUMAN	V	1092	ENSP00000282466:A1092V	ENSP00000282466:A1092V	A	-	2	0	IGSF10	152647184	0.000000	0.05858	0.125000	0.21846	0.021000	0.10359	0.554000	0.23407	2.564000	0.86499	0.591000	0.81541	GCT		0.483	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		10	81	0	0	0	1	0	10	81				
APOB	338	broad.mit.edu	37	2	21249774	21249774	+	Silent	SNP	A	A	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:21249774A>G	ENST00000233242.1	-	15	2257	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	APOB_ENST00000399256.4_Silent_p.F710F	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	710					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTGGGAAAAATCCTTGCT	0.423																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2128-2130)ttT>ttC		apolipoprotein B	Atorvastatin(DB01076)						110.0	108.0	109.0					2																	21249774		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21249774A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2130T>C	2.37:g.21249774A>G						APOB_ENST00000399256.4_Silent_p.F710F	p.F710F	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			15	2257	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		710					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2130T>C	CCDS1703.1																																																																																				0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	42	0	0	0	1	0	9	42				
C6	729	broad.mit.edu	37	5	41201771	41201771	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:41201771C>G	ENST00000263413.3	-	3	453	c.189G>C	c.(187-189)caG>caC	p.Q63H	C6_ENST00000337836.5_Missense_Mutation_p.Q63H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	63	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCTGCAAATCTGTTCACAAA	0.423																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(187-189)caG>caC		complement component 6							109.0	107.0	108.0					5																	41201771		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41201771C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.189G>C	5.37:g.41201771C>G	ENSP00000263413:p.Gln63His					C6_ENST00000337836.5_Missense_Mutation_p.Q63H	p.Q63H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			3	453	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	63			TSP type-1 1.			Missense_Mutation	SNP	ENST00000263413.3	37	c.189G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	9.519	1.107790	0.20714	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.53423	0.62;0.62;0.62	5.92	2.18	0.27775	.	0.556884	0.21802	N	0.068908	T	0.38665	0.1049	L	0.52266	1.64	0.09310	N	1	B	0.17852	0.024	B	0.25405	0.06	T	0.37384	-0.9708	10	0.62326	D	0.03	-0.0056	5.1103	0.14806	0.0:0.4941:0.139:0.3669	.	63	P13671	CO6_HUMAN	H	63	ENSP00000338861:Q63H;ENSP00000263413:Q63H;ENSP00000396565:Q63H	ENSP00000263413:Q63H	Q	-	3	2	C6	41237528	0.113000	0.22115	0.155000	0.22561	0.577000	0.36160	0.524000	0.22940	0.118000	0.18165	-0.136000	0.14681	CAG		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			3	55	0	0	0	1	0	3	55				
SEMA4D	10507	broad.mit.edu	37	9	91994252	91994252	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:91994252G>A	ENST00000450295.1	-	16	2732	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.P652P			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	652					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.P652P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCCACTACGGGCTTTGGAA	0.557																																						ENST00000450295.1																			1	Substitution - coding silent(1)	p.P652P(1)	lung(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1954-1956)ccC>ccT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							142.0	148.0	146.0					9																	91994252		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:91994252G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1956C>T	9.37:g.91994252G>A						SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron	p.P652P			Q92854	SEM4D_HUMAN			16	2732	-			652					B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1956C>T	CCDS6685.1																																																																																				0.557	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		8	137	0	0	0	1	0	8	137				
LRP1B	53353	broad.mit.edu	37	2	141571318	141571318	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:141571318G>A	ENST00000389484.3	-	32	6238	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1756					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTATTTATGGTTCCATTCCC	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5266-5268)aCc>aTc		low density lipoprotein receptor-related protein 1B							157.0	139.0	145.0					2																	141571318		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571318G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5267C>T	2.37:g.141571318G>A	ENSP00000374135:p.Thr1756Ile	TSP Lung(27;0.18)					p.T1756I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6238	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1756					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5267C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283654	0.80803	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.93	5.93	0.95920	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93112	0.6517	10	0.27082	T	0.32	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1756	Q9NZR2	LRP1B_HUMAN	I	1756;1694	ENSP00000374135:T1756I	ENSP00000374135:T1756I	T	-	2	0	LRP1B	141287788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.808000	0.99193	2.805000	0.96524	0.655000	0.94253	ACC		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	55	0	0	0	1	0	3	55				
HK1	3098	broad.mit.edu	37	10	71139678	71139678	+	Silent	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr10:71139678C>T	ENST00000359426.6	+	9	1196	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	HK1_ENST00000360289.2_Silent_p.S352S|HK1_ENST00000448642.2_Silent_p.S399S|HK1_ENST00000404387.2_Silent_p.S368S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.S363S	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	364	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGGAGCCGTCCGATGATGACT	0.547																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1195-1197)tcC>tcT		hexokinase 1							188.0	149.0	162.0					10																	71139678		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71139678C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1092C>T	10.37:g.71139678C>T						HK1_ENST00000359426.6_Silent_p.S364S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.S368S|HK1_ENST00000298649.3_Silent_p.S363S|HK1_ENST00000360289.2_Silent_p.S352S	p.S399S			P19367	HXK1_HUMAN			14	1586	+			364			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.1197C>T	CCDS7292.1																																																																																				0.547	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		12	70	0	0	0	1	0	12	70				
PER2	8864	broad.mit.edu	37	2	239157852	239157852	+	Splice_Site	SNP	T	T	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:239157852T>G	ENST00000254657.3	-	22	3748	c.3469A>C	c.(3469-3471)Aat>Cat	p.N1157H	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1157	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTTCTAAATTTCTTCGCAAG	0.393																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e22-1		period circadian clock 2							90.0	99.0	96.0					2																	239157852		2203	4300	6503	SO:0001630	splice_region_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239157852T>G	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3468-1A>C	2.37:g.239157852T>G						AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.N1157_splice	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	22	3748	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1157			CRY binding domain (By similarity).		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Splice_Site	SNP	ENST00000254657.3	37	c.3467_splice	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044630	0.55110	.	.	ENSG00000132326	ENST00000254657	T	0.14144	2.53	5.22	0.512	0.16994	Period circadian-like, C-terminal (1);	0.219012	0.45867	D	0.000335	T	0.25419	0.0618	L	0.56769	1.78	0.58432	D	0.999997	D;D	0.61080	0.989;0.989	P;P	0.61070	0.883;0.837	T	0.00792	-1.1564	10	0.72032	D	0.01	-9.274	10.1282	0.42663	0.0:0.6587:0.0:0.3413	.	1157;1157	B4DH14;O15055	.;PER2_HUMAN	H	1157	ENSP00000254657:N1157H	ENSP00000254657:N1157H	N	-	1	0	PER2	238822591	0.229000	0.23729	0.005000	0.12908	0.023000	0.10783	0.101000	0.15251	-0.073000	0.12842	0.533000	0.62120	AAT		0.393	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	Missense_Mutation	3	71	0	0	0	1	0	3	71				
MYO15A	51168	broad.mit.edu	37	17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	rs530783345		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17268	0.001		0.0	False		,,,				2504	0.0					ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7267-7269)Ggt>Agt		myosin XVA							63.0	79.0	74.0					17																	18053797		2126	4246	6372	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18053797G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7267G>A	17.37:g.18053797G>A	ENSP00000205890:p.Gly2423Ser						p.G2423S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			36	7605	+	all_neural(463;0.228)		2423			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7267G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.175990	0.21704	.	.	ENSG00000091536	ENST00000205890	D	0.90324	-2.65	4.67	-0.308	0.12773	.	.	.	.	.	D	0.86393	0.5922	L	0.53249	1.67	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.73569	-0.3941	9	0.33940	T	0.23	.	10.9018	0.47056	0.2928:0.0:0.7072:0.0	.	2423	Q9UKN7	MYO15_HUMAN	S	2423	ENSP00000205890:G2423S	ENSP00000205890:G2423S	G	+	1	0	MYO15A	17994522	0.084000	0.21492	0.185000	0.23176	0.113000	0.19764	1.122000	0.31295	0.078000	0.16900	-1.810000	0.00614	GGT		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		8	63	0	0	0	1	0	8	63				
ABCA1	19	broad.mit.edu	37	9	107547843	107547843	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:107547843C>T	ENST00000374736.3	-	49	6873	c.6479G>A	c.(6478-6480)gGa>gAa	p.G2160E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2160					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AAATGCAAGTCCAAAGAAATC	0.438																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6478-6480)gGa>gAa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						100.0	102.0	102.0					9																	107547843		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547843C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6479G>A	9.37:g.107547843C>T	ENSP00000363868:p.Gly2160Glu						p.G2160E	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6873	-			2160					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6479G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	4.277	0.050491	0.08243	.	.	ENSG00000165029	ENST00000374736	T	0.81330	-1.48	6.0	4.08	0.47627	.	0.215214	0.49916	N	0.000138	T	0.47783	0.1464	N	0.00686	-1.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43410	-0.9393	10	0.07990	T	0.79	.	10.5915	0.45312	0.0:0.7862:0.0:0.2138	.	2160	O95477	ABCA1_HUMAN	E	2160	ENSP00000363868:G2160E	ENSP00000363868:G2160E	G	-	2	0	ABCA1	106587664	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	0.794000	0.33899	0.650000	0.86243	GGA		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	82	0	0	0	1	0	4	82				
ZFYVE1	53349	broad.mit.edu	37	14	73441529	73441529	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr14:73441529G>A	ENST00000556143.1	-	10	2665	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ZFYVE1_ENST00000554145.1_5'Flank|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R649W|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.R234W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R635W|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.R234W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	649					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.R649W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCACAGACCCGCACTGGCGCA	0.627																																						ENST00000556143.1																			1	Substitution - Missense(1)	p.R649W(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(1945-1947)Cgg>Tgg		zinc finger, FYVE domain containing 1							88.0	85.0	86.0					14																	73441529		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73441529G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1945C>T	14.37:g.73441529G>A	ENSP00000450742:p.Arg649Trp					ZFYVE1_ENST00000555072.1_Missense_Mutation_p.R234W|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R649W|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.R234W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R635W	p.R649W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	10	2665	-		all_lung(585;1.33e-09)	649					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.1945C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768501	0.90020	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	6.06	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.110994	0.64402	D	0.000011	D	0.94801	0.8321	H	0.99777	4.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96781	0.9575	10	0.87932	D	0	-22.2587	15.6634	0.77206	0.0:0.0:0.749:0.251	.	649;649	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	W	649;635;649;234;234	ENSP00000452442:R649W;ENSP00000326921:R635W;ENSP00000450742:R649W;ENSP00000377757:R234W;ENSP00000452232:R234W	ENSP00000326921:R649W	R	-	1	2	ZFYVE1	72511282	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.588000	0.36633	0.863000	0.35553	0.650000	0.86243	CGG		0.627	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		3	45	0	0	0	1	0	3	45				
CELSR2	1952	broad.mit.edu	37	1	109793213	109793213	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:109793213G>A	ENST00000271332.3	+	1	573	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	171					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGTGGGCGTCGGAAAAGGAAT	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(511-513)cGg>cAg		cadherin, EGF LAG seven-pass G-type receptor 2							52.0	67.0	62.0					1																	109793213		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793213G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.512G>A	1.37:g.109793213G>A	ENSP00000271332:p.Arg171Gln						p.R171Q	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	573	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	171					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.512G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	13.80	2.346244	0.41599	.	.	ENSG00000143126	ENST00000271332	T	0.68331	-0.32	4.72	4.72	0.59763	.	.	.	.	.	T	0.35799	0.0944	L	0.34521	1.04	0.41235	D	0.986609	B	0.26602	0.154	B	0.09377	0.004	T	0.33033	-0.9884	9	0.35671	T	0.21	.	8.8088	0.34954	0.0996:0.0:0.9004:0.0	.	171	Q9HCU4	CELR2_HUMAN	Q	171	ENSP00000271332:R171Q	ENSP00000271332:R171Q	R	+	2	0	CELSR2	109594736	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.984000	0.49353	2.476000	0.83614	0.555000	0.69702	CGG		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	23	0	0	0	1	0	4	23				
RSPO3	84870	broad.mit.edu	37	6	127471649	127471649	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr6:127471649G>A	ENST00000356698.4	+	3	957	c.368G>A	c.(367-369)gGa>gAa	p.G123E	RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	123					branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TTACACCTTGGAAAGTGCCTT	0.373																																						ENST00000356698.4																		PTPRK/RSPO3(10)	0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(367-369)gGa>gAa		R-spondin 3							121.0	116.0	118.0					6																	127471649		2203	4300	6503	SO:0001583	missense	84870					extracellular region	heparin binding	g.chr6:127471649G>A	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.368G>A	6.37:g.127471649G>A	ENSP00000349131:p.Gly123Glu					RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E	p.G123E	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	3	957	+			123					B2RC27|Q5VTV4|Q96K87	Missense_Mutation	SNP	ENST00000356698.4	37	c.368G>A	CCDS5135.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030922	0.93575	.	.	ENSG00000146374	ENST00000356698;ENST00000368317	D;D	0.84944	-1.92;-1.92	5.73	5.73	0.89815	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.91300	0.7257	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91033	0.4865	10	0.87932	D	0	.	20.263	0.98456	0.0:0.0:1.0:0.0	.	123;123	Q9BXY4-2;Q9BXY4	.;RSPO3_HUMAN	E	123	ENSP00000349131:G123E;ENSP00000357300:G123E	ENSP00000349131:G123E	G	+	2	0	RSPO3	127513342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.868000	0.98415	0.555000	0.69702	GGA		0.373	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		4	51	0	0	0	1	0	4	51				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	55	0	0	0	1	0	4	55				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	23	0	0	0	1	0	3	23				
DAPK3	1613	broad.mit.edu	37	19	3964647	3964647	+	Silent	SNP	G	G	T	rs144975421		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:3964647G>T	ENST00000545797.2	-	3	648	c.405C>A	c.(403-405)atC>atA	p.I135I	DAPK3_ENST00000301264.3_Silent_p.I135I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(403-405)atC>atA		death-associated protein kinase 3		G		0,4406		0,0,2203	108.0	110.0	110.0		405	-6.2	0.2	19	dbSNP_134	110	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	DAPK3	NM_001348.1		0,9,6494	TT,TG,GG		0.1047,0.0,0.0692		135/455	3964647	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964647G>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.405C>A	19.37:g.3964647G>T						DAPK3_ENST00000301264.3_Silent_p.I135I	p.I135I			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	648	-		Hepatocellular(1079;0.137)	135			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.405C>A	CCDS12116.1																																																																																				0.642	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		13	74	1	0	1.05317e-09	1	1.07766e-09	13	74				
HAS2	3037	broad.mit.edu	37	8	122626638	122626638	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr8:122626638G>A	ENST00000303924.4	-	4	1907	c.1370C>T	c.(1369-1371)aCa>aTa	p.T457I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	457					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGTTTATTGTTGCAATTGC	0.428																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1369-1371)aCa>aTa		hyaluronan synthase 2							137.0	135.0	136.0					8																	122626638		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626638G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1370C>T	8.37:g.122626638G>A	ENSP00000306991:p.Thr457Ile						p.T457I	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1907	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		457					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1370C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441407	0.63067	.	.	ENSG00000170961	ENST00000303924	T	0.59772	0.24	6.17	5.3	0.74995	.	0.084915	0.85682	D	0.000000	T	0.81153	0.4763	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85938	0.1456	10	0.87932	D	0	-20.116	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	457	Q92819	HAS2_HUMAN	I	457	ENSP00000306991:T457I	ENSP00000306991:T457I	T	-	2	0	HAS2	122695819	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	9.856000	0.99531	1.630000	0.50440	0.655000	0.94253	ACA		0.428	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		9	216	0	0	0	1	0	9	216				
HIVEP3	59269	broad.mit.edu	37	1	41976593	41976593	+	Silent	SNP	C	C	T	rs139361589		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:41976593C>T	ENST00000372583.1	-	9	7635	c.6750G>A	c.(6748-6750)tcG>tcA	p.S2250S	HIVEP3_ENST00000372584.1_Silent_p.S2249S|HIVEP3_ENST00000247584.5_Silent_p.S2250S|HIVEP3_ENST00000429157.2_Silent_p.S2249S|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2250					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGAGGCTGACGAGCTCTCAG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		13802	0.0		0.0	False		,,,				2504	0.001					ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6745-6747)tcG>tcA		human immunodeficiency virus type I enhancer binding protein 3		C	,	1,4405	2.1+/-5.4	0,1,2202	38.0	42.0	40.0		6747,6750	-10.3	0.0	1	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	2249/2406,2250/2407	41976593	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976593C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6750G>A	1.37:g.41976593C>T						HIVEP3_ENST00000429157.2_Silent_p.S2249S|HIVEP3_ENST00000372583.1_Silent_p.S2250S|HIVEP3_ENST00000247584.5_Silent_p.S2250S|HIVEP3_ENST00000460604.1_5'UTR	p.S2249S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7761	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2250					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.6747G>A	CCDS463.1																																																																																				0.682	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		4	28	0	0	0	1	0	4	28				
IMP4	92856	broad.mit.edu	37	2	131103658	131103658	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:131103658C>T	ENST00000259239.3	+	7	1370	c.662C>T	c.(661-663)gCa>gTa	p.A221V	IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	221	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ATCACCTTCGCAAACCAGGAC	0.572																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(661-663)gCa>gTa		IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)							121.0	118.0	119.0					2																	131103658		2203	4300	6503	SO:0001583	missense	92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103658C>T	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.662C>T	2.37:g.131103658C>T	ENSP00000259239:p.Ala221Val					IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	p.A221V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			7	1370	+	Colorectal(110;0.1)		221			Brix.		Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.662C>T	CCDS2160.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.47|18.47	3.631789|3.631789	0.67015|0.67015	.|.	.|.	ENSG00000136718|ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740|ENST00000452955	T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Brix domain (3);Anticodon-binding (1);|.	0.047075|.	0.85682|.	D|.	0.000000|.	T|.	0.70780|.	0.3263|.	L|L	0.52823|0.52823	1.66|1.66	0.80722|0.80722	D|D	1|1	B|.	0.16603|.	0.018|.	B|.	0.21360|.	0.034|.	T|.	0.66048|.	-0.6020|.	10|.	0.27082|.	T|.	0.32|.	-22.5451|-22.5451	17.8009|17.8009	0.88586|0.88586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	221|.	Q96G21|.	IMP4_HUMAN|.	V|X	221;221;136;166|210	ENSP00000259239:A221V;ENSP00000386411:A221V;ENSP00000386716:A136V;ENSP00000389701:A166V|.	ENSP00000259239:A221V|.	A|Q	+|+	2|1	0|0	IMP4|IMP4	130820128|130820128	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.933000|0.933000	0.57130|0.57130	5.020000|5.020000	0.64066|0.64066	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.572	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		7	22	0	0	0	1	0	7	22				
TMEM132A	54972	broad.mit.edu	37	11	60704344	60704344	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:60704344C>T	ENST00000453848.2	+	11	3195	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R1014C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	1013	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R1014C(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGAGGAGCTTCGCAACTACAT	0.647																																						ENST00000005286.4																			1	Substitution - Missense(1)	p.R1014C(1)	large_intestine(1)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(3040-3042)Cgc>Tgc		transmembrane protein 132A							31.0	38.0	36.0					11																	60704344		2201	4294	6495	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60704344C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.3037C>T	11.37:g.60704344C>T	ENSP00000405823:p.Arg1013Cys					TMEM132A_ENST00000453848.2_Missense_Mutation_p.R1013C	p.R1014C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			11	3193	+			1013			Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.3040C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881188	0.72294	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.13538	2.59;2.58	4.55	3.56	0.40772	.	0.101149	0.41294	D	0.000905	T	0.35856	0.0946	M	0.75085	2.285	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.22487	-1.0215	10	0.87932	D	0	-16.1454	14.3582	0.66752	0.1482:0.8518:0.0:0.0	.	1013;1014	Q24JP5;Q24JP5-2	T132A_HUMAN;.	C	764;1013;1014	ENSP00000405823:R1013C;ENSP00000005286:R1014C	ENSP00000005286:R1014C	R	+	1	0	TMEM132A	60460920	0.238000	0.23825	0.998000	0.56505	0.994000	0.84299	1.069000	0.30641	2.537000	0.85549	0.655000	0.94253	CGC		0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		3	26	0	0	0	1	0	3	26				
ZNF558	148156	broad.mit.edu	37	19	8931882	8931882	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:8931882T>C	ENST00000601372.1	-	7	932	c.221A>G	c.(220-222)gAg>gGg	p.E74G	ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G|ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000599938.1_5'Flank			Q96NG5	ZN558_HUMAN	zinc finger protein 558	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTGCAGTTCTCCAGCATCAC	0.512																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(220-222)gAg>gGg		zinc finger protein 558							144.0	122.0	129.0					19																	8931882		2203	4300	6503	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8931882T>C	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.221A>G	19.37:g.8931882T>C	ENSP00000471277:p.Glu74Gly					ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G	p.E74G			Q96NG5	ZN558_HUMAN			7	932	-			74			KRAB.		A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.221A>G	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744984	0.49151	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.04406	3.63;5.01	3.22	3.22	0.36961	Krueppel-associated box (4);	.	.	.	.	T	0.27594	0.0678	H	0.94423	3.535	0.33753	D	0.62092	D	0.69078	0.997	D	0.83275	0.996	T	0.50816	-0.8783	9	0.66056	D	0.02	.	9.7625	0.40541	0.0:0.0:0.0:1.0	.	74	Q96NG5	ZN558_HUMAN	G	74;3	ENSP00000301475:E74G;ENSP00000410703:E3G	ENSP00000301475:E74G	E	-	2	0	ZNF558	8792882	0.998000	0.40836	1.000000	0.80357	0.447000	0.32167	1.720000	0.38022	1.483000	0.48342	0.260000	0.18958	GAG		0.512	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		4	28	0	0	0	1	0	4	28				
TOPORS	10210	broad.mit.edu	37	9	32541842	32541842	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:32541842T>C	ENST00000360538.2	-	3	2797	c.2681A>G	c.(2680-2682)aAg>aGg	p.K894R	TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	894	Interaction with UBE2I.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATGGTGTttcttatgcttctt	0.373																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2680-2682)aAg>aGg		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							170.0	168.0	169.0					9																	32541842		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541842T>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2681A>G	9.37:g.32541842T>C	ENSP00000353735:p.Lys894Arg					TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	p.K894R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2797	-			894			Interaction with UBE2I.|Lys-rich.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2681A>G	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	6.644	0.487395	0.12641	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16457	2.34;2.36	5.81	-0.509	0.11977	.	0.474446	0.18077	N	0.152424	T	0.07098	0.0180	N	0.11560	0.145	0.27889	N	0.939413	B	0.02656	0.0	B	0.13407	0.009	T	0.38156	-0.9674	10	0.18276	T	0.48	-2.6026	7.2978	0.26403	0.0:0.4632:0.1444:0.3923	.	894	Q9NS56	TOPRS_HUMAN	R	894;829	ENSP00000353735:K894R;ENSP00000369187:K829R	ENSP00000353735:K894R	K	-	2	0	TOPORS	32531842	0.997000	0.39634	0.988000	0.46212	0.973000	0.67179	1.247000	0.32815	-0.096000	0.12329	-0.256000	0.11100	AAG		0.373	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		19	94	0	0	0	1	0	19	94				
ABCA1	19	broad.mit.edu	37	9	107547844	107547844	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:107547844C>T	ENST00000374736.3	-	49	6872	c.6478G>A	c.(6478-6480)Gga>Aga	p.G2160R		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2160					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G2160R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AATGCAAGTCCAAAGAAATCC	0.433																																						ENST00000374736.3																			1	Substitution - Missense(1)	p.G2160R(1)	autonomic_ganglia(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(6478-6480)Gga>Aga		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						100.0	102.0	101.0					9																	107547844		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547844C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6478G>A	9.37:g.107547844C>T	ENSP00000363868:p.Gly2160Arg						p.G2160R	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6872	-			2160					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6478G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916301	0.33815	.	.	ENSG00000165029	ENST00000374736	T	0.81330	-1.48	6.0	6.0	0.97389	.	0.215214	0.49916	D	0.000138	T	0.58708	0.2141	N	0.04203	-0.255	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.56751	-0.7927	10	0.15952	T	0.53	.	10.1396	0.42728	0.0:0.7918:0.1378:0.0704	.	2160	O95477	ABCA1_HUMAN	R	2160	ENSP00000363868:G2160R	ENSP00000363868:G2160R	G	-	1	0	ABCA1	106587665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.269000	0.51592	2.850000	0.98022	0.650000	0.86243	GGA		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		4	83	0	0	0	1	0	4	83				
RP11-252A24.2	0	broad.mit.edu	37	16	74385943	74385943	+	RNA	SNP	T	T	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr16:74385943T>A	ENST00000429810.2	-	0	809																											CTCACCATTTTGGGAGGCAGC	0.512																																						ENST00000429810.2																			0																																																			0							g.chr16:74385943T>A																													16.37:g.74385943T>A														0	809	-									RNA	SNP	ENST00000429810.2	37			.	.	.	.	.	.	.	.	.	.	T	9.491	1.100773	0.20552	.	.	ENSG00000214331	ENST00000429810	.	.	.	3.6	3.6	0.41247	.	0.286767	0.33916	U	0.004440	T	0.40932	0.1137	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51529	-0.8694	5	0.39692	T	0.17	.	4.005	0.09597	0.1867:0.1112:0.0:0.7021	.	.	.	.	L	201	.	ENSP00000393936:Q201L	Q	-	2	0	AC009053.1	72943444	0.999000	0.42202	0.999000	0.59377	0.406000	0.30931	2.064000	0.41432	1.653000	0.50694	0.163000	0.16589	CAA		0.512	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	39	0	0	0	1	0	8	39				
PRDM5	11107	broad.mit.edu	37	4	121702371	121702371	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr4:121702371C>T	ENST00000264808.3	-	12	1610	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K|PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	457					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTCTTGTGTCTTTCATGAAC	0.393																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1369-1371)aGa>aAa		PR domain containing 5							176.0	145.0	155.0					4																	121702371		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121702371C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1370G>A	4.37:g.121702371C>T	ENSP00000264808:p.Arg457Lys					PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K	p.R457K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			12	1610	-			457					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1370G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530592	0.85706	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.15487	2.42;2.42;2.42	5.9	5.9	0.94986	Zinc finger, C2H2 (1);	0.048483	0.85682	D	0.000000	T	0.17323	0.0416	N	0.17474	0.49	0.80722	D	1	B;B;B	0.31655	0.334;0.102;0.334	B;B;B	0.36959	0.237;0.054;0.237	T	0.07635	-1.0762	10	0.87932	D	0	-11.0878	20.2704	0.98474	0.0:1.0:0.0:0.0	.	426;426;457	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	K	457;426;426	ENSP00000264808:R457K;ENSP00000422309:R426K;ENSP00000404832:R426K	ENSP00000264808:R457K	R	-	2	0	PRDM5	121921821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.669000	0.83911	2.793000	0.96121	0.591000	0.81541	AGA		0.393	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			11	41	0	0	0	1	0	11	41				
GPR98	84059	broad.mit.edu	37	5	89981695	89981695	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:89981695C>T	ENST00000405460.2	+	29	6469	c.6373C>T	c.(6373-6375)Cca>Tca	p.P2125S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2125	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCTCAGCACCAATTGTCCG	0.433																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6373-6375)Cca>Tca		G protein-coupled receptor 98							106.0	96.0	99.0					5																	89981695		1934	4137	6071	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981695C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6373C>T	5.37:g.89981695C>T	ENSP00000384582:p.Pro2125Ser						p.P2125S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6469	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2125					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6373C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	3.639	-0.073930	0.07184	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29655	1.56	5.8	2.01	0.26516	Na-Ca exchanger/integrin-beta4 (2);	0.219986	0.49916	N	0.000134	T	0.07818	0.0196	N	0.00926	-1.1	0.80722	D	1	B	0.16802	0.019	B	0.22753	0.041	T	0.11299	-1.0593	10	0.20519	T	0.43	.	1.6343	0.02739	0.2576:0.4229:0.1257:0.1937	.	2125	Q8WXG9	GPR98_HUMAN	S	2125	ENSP00000384582:P2125S	ENSP00000296619:P2125S	P	+	1	0	GPR98	90017451	0.005000	0.15991	0.013000	0.15412	0.573000	0.36030	0.085000	0.14912	0.345000	0.23873	0.591000	0.81541	CCA		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	16	0	0	0	1	0	3	16				
FAM71B	153745	broad.mit.edu	37	5	156590508	156590508	+	Silent	SNP	C	C	G	rs374456009		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:156590508C>G	ENST00000302938.4	-	2	863	c.768G>C	c.(766-768)ggG>ggC	p.G256G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	256	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCAGCAGCCCCTGGAGTGC	0.582																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(766-768)ggG>ggC		family with sequence similarity 71, member B							91.0	78.0	82.0					5																	156590508		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590508C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.768G>C	5.37:g.156590508C>G							p.G256G	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	863	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	256			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.768G>C	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		7	48	0	0	0	1	0	7	48				
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr18:55103477_55103479delCAC	ENST00000491143.2	+	1	561_563	c.529_531delCAC	c.(529-531)cacdel	p.H184del	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	184	Poly-His.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(529-531)del		one cut homeobox 2				142,294,3708		10,1,121,12,269,1659						-3.2	0.9			40	19,703,7402		1,0,17,11,681,3352	no	codingComplex	ONECUT2	NM_004852.2		11,1,138,23,950,5011	A1A1,A1A2,A1R,A2A2,A2R,RR		8.8872,10.5212,9.4392				161,997,11110				SO:0001651	inframe_deletion	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103477_55103479delCAC	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.529_531delCAC	18.37:g.55103486_55103488delCAC	ENSP00000419185:p.His184del						p.H184del	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	561_563	+		Colorectal(73;0.234)	184			Poly-His.			In_Frame_Del	DEL	ENST00000491143.2	37	c.529_531delCAC	CCDS42440.1																																																																																				0.655	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			3	6						3	6	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			2	4						2	4	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000380102.2																			1	Deletion - In frame(1)	p.S50_P54delSCCAP(1)	upper_aerodigestive_tract(1)	breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(133-150)ccc>cc		keratin associated protein 10-7			,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675					keratin filament		g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS45del	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	160_174	+			45			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	In_Frame_Del	DEL	ENST00000380102.2	37	c.135_149delCTGCTGCGCCCCCAG																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		3	5						3	5	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12937492	12937492	+	Frame_Shift_Del	DEL	A	A	-	rs576185229		TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chrX:12937492delA	ENST00000218032.6	+	2	420	c.333delA	c.(331-333)tcafs	p.S111fs	TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	111					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTATACAATCAAATGGCTTGA	0.418																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(331-333)tcfs		toll-like receptor 8							127.0	129.0	128.0					X																	12937492		2203	4300	6503	SO:0001589	frameshift_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937492delA	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.333delA	X.37:g.12937492delA	ENSP00000218032:p.Ser111fs					TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	p.S111fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	420	+			111					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Frame_Shift_Del	DEL	ENST00000218032.6	37	c.333delA	CCDS14152.1																																																																																				0.418	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		22	46						22	46	---	---	---	---
