#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
ANKRD26	22852	broad.mit.edu	37	10	27324646	27324646	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:27324646C>T	ENST00000376087.4	-	24	2898	c.2733G>A	c.(2731-2733)tcG>tcA	p.S911S	ANKRD26_ENST00000436985.2_Silent_p.S927S|ANKRD26_ENST00000376070.3_Silent_p.S468S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	910					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATTTTTATGCGATAGGTCTT	0.328																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2731-2733)tcG>tcA		ankyrin repeat domain 26							40.0	33.0	35.0					10																	27324646		1810	4078	5888	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27324646C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2733G>A	10.37:g.27324646C>T						ANKRD26_ENST00000436985.2_Silent_p.S927S|ANKRD26_ENST00000376070.3_Silent_p.S468S	p.S911S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	2898	-			910					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.2733G>A	CCDS41499.1																																																																																				0.328	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			19	32	0	0	0	1	0	19	32				
TMEM130	222865	broad.mit.edu	37	7	98453743	98453743	+	Silent	SNP	G	G	A	rs369234660		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:98453743G>A	ENST00000416379.2	-	4	619	c.615C>T	c.(613-615)acC>acT	p.T205T	TMEM130_ENST00000450876.1_Silent_p.T121T|TMEM130_ENST00000339375.4_Silent_p.T205T|TMEM130_ENST00000345589.4_Silent_p.T103T|TMEM130_ENST00000546258.1_Silent_p.T186T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	205	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGCTTCACGGTGAAGGTCC	0.572																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(361-363)acC>acT		transmembrane protein 130		G	,,	0,4406		0,0,2203	94.0	89.0	90.0		615,309,615	-8.3	0.5	7		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TMEM130	NM_001134450.1,NM_001134451.1,NM_152913.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	205/436,103/322,205/424	98453743	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98453743G>A		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.615C>T	7.37:g.98453743G>A						TMEM130_ENST00000339375.4_Silent_p.T205T|TMEM130_ENST00000345589.4_Silent_p.T103T|TMEM130_ENST00000546258.1_Silent_p.T186T|TMEM130_ENST00000416379.2_Silent_p.T205T	p.T121T			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1678	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		205					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.363C>T	CCDS47650.1																																																																																				0.572	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		8	20	0	0	0	1	0	8	20				
GRIA4	2893	broad.mit.edu	37	11	105769024	105769024	+	Silent	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:105769024T>C	ENST00000530497.1	+	6	756	c.756T>C	c.(754-756)ttT>ttC	p.F252F	GRIA4_ENST00000393127.2_Silent_p.F252F|GRIA4_ENST00000525187.1_Silent_p.F252F|GRIA4_ENST00000282499.5_Silent_p.F252F|GRIA4_ENST00000428631.2_Silent_p.F252F|GRIA4_ENST00000393125.2_Silent_p.F252F			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	252					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTGAGAGGTTTATACATGGTG	0.328																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(754-756)ttT>ttC		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						50.0	52.0	52.0					11																	105769024		2202	4299	6501	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105769024T>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.756T>C	11.37:g.105769024T>C						GRIA4_ENST00000530497.1_Silent_p.F252F|GRIA4_ENST00000428631.2_Silent_p.F252F|GRIA4_ENST00000282499.5_Silent_p.F252F|GRIA4_ENST00000393125.2_Silent_p.F252F|GRIA4_ENST00000525187.1_Silent_p.F252F	p.F252F	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	7	1202	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	252					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.756T>C	CCDS8333.1																																																																																				0.328	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			3	57	0	0	0	1	0	3	57				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	12	0	0	0	1	0	3	12				
MSL2	55167	broad.mit.edu	37	3	135870114	135870114	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:135870114G>A	ENST00000309993.2	-	2	2341	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	MSL2_ENST00000434835.2_Missense_Mutation_p.R463C	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	537					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTAGCGTTACGCACAGCAATG	0.498																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1609-1611)Cgt>Tgt		male-specific lethal 2 homolog (Drosophila)							108.0	100.0	102.0					3																	135870114		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870114G>A	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1609C>T	3.37:g.135870114G>A	ENSP00000311827:p.Arg537Cys					MSL2_ENST00000434835.2_Missense_Mutation_p.R463C	p.R537C	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	2341	-			537					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1609C>T	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473932	0.43942	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.8	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.68317	2.08	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.76366	-0.2985	9	0.87932	D	0	-6.3129	11.4257	0.50009	0.145:0.0:0.855:0.0	.	537	Q9HCI7	MSL2_HUMAN	C	537;463	.	ENSP00000311827:R537C	R	-	1	0	MSL2	137352804	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	6.498000	0.73679	0.804000	0.34136	0.467000	0.42956	CGT		0.498	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		5	272	0	0	0	1	0	5	272				
OR10AG1	282770	broad.mit.edu	37	11	55735317	55735317	+	Missense_Mutation	SNP	G	G	T	rs370375009		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:55735317G>T	ENST00000312345.2	-	1	673	c.623C>A	c.(622-624)tCt>tAt	p.S208Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTTGCCATAAGAGACAACAAT	0.393																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(622-624)tCt>tAt		olfactory receptor, family 10, subfamily AG, member 1							70.0	70.0	70.0					11																	55735317		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735317G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.623C>A	11.37:g.55735317G>T	ENSP00000311477:p.Ser208Tyr						p.S208Y	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	673	-	Esophageal squamous(21;0.0137)		208					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.623C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137332	0.77775	.	.	ENSG00000174970	ENST00000312345	T	0.46063	0.88	5.37	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000040	T	0.73187	0.3555	H	0.98218	4.175	0.37164	D	0.902747	D	0.57257	0.979	P	0.60012	0.867	D	0.85073	0.0941	10	0.87932	D	0	.	12.1504	0.54046	0.0842:0.0:0.9158:0.0	.	208	Q8NH19	O10AG_HUMAN	Y	208	ENSP00000311477:S208Y	ENSP00000311477:S208Y	S	-	2	0	OR10AG1	55491893	1.000000	0.71417	0.978000	0.43139	0.883000	0.51084	3.702000	0.54800	1.310000	0.45006	0.477000	0.44152	TCT		0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		25	42	1	0	1.2476e-16	1	1.32656e-16	25	42				
NOL10	79954	broad.mit.edu	37	2	10803140	10803140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:10803140G>A	ENST00000381685.5	-	9	727	c.622C>T	c.(622-624)Cga>Tga	p.R208*	NOL10_ENST00000345985.3_Nonsense_Mutation_p.R208*|NOL10_ENST00000538384.1_Nonsense_Mutation_p.R182*|NOL10_ENST00000542668.1_Nonsense_Mutation_p.R158*	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	208						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ACTCTGTTTCGAGTTCTTGGG	0.408																																						ENST00000345985.3																			0											c.(622-624)Cga>Tga		nucleolar protein 10							71.0	67.0	68.0					2																	10803140		2203	4300	6503	SO:0001587	stop_gained	79954					nucleolus		g.chr2:10803140G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.622C>T	2.37:g.10803140G>A	ENSP00000371101:p.Arg208*					NOL10_ENST00000381685.5_Nonsense_Mutation_p.R208*|NOL10_ENST00000542668.1_Nonsense_Mutation_p.R158*|NOL10_ENST00000538384.1_Nonsense_Mutation_p.R182*	p.R208*	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	9	732	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		208					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Nonsense_Mutation	SNP	ENST00000381685.5	37	c.622C>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272344	0.80580	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384;ENST00000431319	.	.	.	5.21	1.79	0.24919	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0736	6.4631	0.21968	0.0947:0.0:0.3864:0.5188	.	.	.	.	X	208;208;158;182;99	.	ENSP00000263837:R208X	R	-	1	2	NOL10	10720591	0.966000	0.33281	0.088000	0.20740	0.818000	0.46254	1.637000	0.37155	0.644000	0.30656	-0.251000	0.11542	CGA		0.408	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		16	20	0	0	0	1	0	16	20				
IRGQ	126298	broad.mit.edu	37	19	44096355	44096355	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:44096355G>A	ENST00000602269.1	-	2	1880	c.1695C>T	c.(1693-1695)ggC>ggT	p.G565G	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Silent_p.G565G|IRGQ_ENST00000601520.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	565	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CAGTGCCCTCGCCCGCCCAGG	0.731																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1693-1695)ggC>ggT		immunity-related GTPase family, Q							8.0	12.0	11.0					19																	44096355		2143	4189	6332	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44096355G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1695C>T	19.37:g.44096355G>A						IRGQ_ENST00000602269.1_Silent_p.G565G|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_Intron	p.G565G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1850	-		Prostate(69;0.0199)	565			Ala-rich.		B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1695C>T	CCDS33040.1																																																																																				0.731	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		3	9	0	0	0	1	0	3	9				
HECA	51696	broad.mit.edu	37	6	139487785	139487785	+	Silent	SNP	G	G	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:139487785G>T	ENST00000367658.2	+	2	921	c.636G>T	c.(634-636)ggG>ggT	p.G212G	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	212					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAACACAGGGAGGCCTCCTG	0.597																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(634-636)ggG>ggT		headcase homolog (Drosophila)							34.0	40.0	38.0					6																	139487785		2203	4300	6503	SO:0001819	synonymous_variant	51696				respiratory tube development			g.chr6:139487785G>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.636G>T	6.37:g.139487785G>T						RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	p.G212G	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	921	+			212						Silent	SNP	ENST00000367658.2	37	c.636G>T	CCDS5194.1																																																																																				0.597	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		18	8	1	0	6.49762e-13	1	6.8225e-13	18	8				
MAFB	9935	broad.mit.edu	37	20	39316685	39316685	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr20:39316685T>C	ENST00000373313.2	-	1	1195	c.806A>G	c.(805-807)gAg>gGg	p.E269G	MAFB_ENST00000396967.1_Missense_Mutation_p.E269G	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	269	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CTGCGTCTTCTCATTCTCCAG	0.602			T	IGH@	MM																																	ENST00000373313.2				Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0				kidney(1)|large_intestine(1)	2						c.(805-807)gAg>gGg		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B							66.0	67.0	66.0					20																	39316685		2203	4300	6503	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39316685T>C	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.806A>G	20.37:g.39316685T>C	ENSP00000362410:p.Glu269Gly					MAFB_ENST00000396967.1_Missense_Mutation_p.E269G	p.E269G	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN			1	1195	-		Myeloproliferative disorder(115;0.00878)	269			Leucine-zipper.		B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.806A>G	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020286	0.75275	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.91686	-2.89;-2.89	4.47	4.47	0.54385	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96147	0.9105	10	0.52906	T	0.07	-3.744	13.9719	0.64245	0.0:0.0:0.0:1.0	.	269	Q9Y5Q3	MAFB_HUMAN	G	269	ENSP00000362410:E269G;ENSP00000380167:E269G	ENSP00000362410:E269G	E	-	2	0	MAFB	38750099	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	1.905000	0.55150	0.374000	0.22700	GAG		0.602	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			37	34	0	0	0	1	0	37	34				
ZFP2	80108	broad.mit.edu	37	5	178358599	178358599	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:178358599G>A	ENST00000361362.2	+	5	815	c.285G>A	c.(283-285)atG>atA	p.M95I	ZFP2_ENST00000503510.2_Missense_Mutation_p.M95I|ZFP2_ENST00000523286.1_Missense_Mutation_p.M95I|ZFP2_ENST00000520301.1_Missense_Mutation_p.M95I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		CTCAAAGAATGTTTGTAGGAA	0.388																																						ENST00000361362.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20						c.(283-285)atG>atA		ZFP2 zinc finger protein							54.0	56.0	55.0					5																	178358599		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358599G>A	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.285G>A	5.37:g.178358599G>A	ENSP00000354453:p.Met95Ile					ZFP2_ENST00000503510.2_Missense_Mutation_p.M95I|ZFP2_ENST00000520301.1_Missense_Mutation_p.M95I|ZFP2_ENST00000523286.1_Missense_Mutation_p.M95I	p.M95I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	815	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	95					A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.285G>A	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.071851	0.00379	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.00986	5.47;5.47;5.47;5.47	4.71	0.768	0.18487	.	0.193778	0.25523	N	0.030085	T	0.00328	0.0010	N	0.01202	-0.96	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47289	-0.9129	10	0.02654	T	1	-0.5273	2.9996	0.06009	0.2907:0.0:0.4111:0.2982	.	95	Q6ZN57	ZFP2_HUMAN	I	95	ENSP00000354453:M95I;ENSP00000430980:M95I;ENSP00000430531:M95I;ENSP00000438114:M95I	ENSP00000354453:M95I	M	+	3	0	ZFP2	178291205	0.000000	0.05858	0.966000	0.40874	0.567000	0.35839	0.858000	0.27845	0.593000	0.29745	0.591000	0.81541	ATG		0.388	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		39	40	0	0	0	1	0	39	40				
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.L1043R(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3127-3129)cTc>cGc		trichohyalin							121.0	124.0	123.0					1																	152082565		1956	4131	6087	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082565A>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3128T>G	1.37:g.152082565A>C	ENSP00000357794:p.Leu1043Arg						p.L1043R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3127	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1043			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3128T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298639	0.10622	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	3.32	2.39	0.29439	.	.	.	.	.	T	0.00608	0.0020	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	9	0.14252	T	0.57	.	9.3484	0.38122	0.5564:0.4436:0.0:0.0	.	1043	Q07283	TRHY_HUMAN	R	1043	ENSP00000357794:L1043R	ENSP00000357794:L1043R	L	-	2	0	TCHH	150349189	0.000000	0.05858	0.007000	0.13788	0.087000	0.18053	-5.896000	0.00092	-0.005000	0.14395	-2.437000	0.00212	CTC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	153	0	0	0	1	0	5	153				
RAB25	57111	broad.mit.edu	37	1	156035757	156035757	+	Silent	SNP	G	G	A	rs373021788		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:156035757G>A	ENST00000361084.5	+	2	340	c.99G>A	c.(97-99)acG>acA	p.T33T	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	33					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCCGATTCACGCGCAATGAGT	0.582																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(97-99)acG>acA		RAB25, member RAS oncogene family		G		0,4326		0,0,2163	77.0	82.0	80.0		99	-11.1	0.0	1		80	1,8525		0,1,4262	no	coding-synonymous	RAB25	NM_020387.2		0,1,6425	AA,AG,GG		0.0117,0.0,0.0078		33/214	156035757	1,12851	2163	4263	6426	SO:0001819	synonymous_variant	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156035757G>A	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.99G>A	1.37:g.156035757G>A						RAB25_ENST00000487325.1_Intron	p.T33T	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			2	340	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		33					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Silent	SNP	ENST00000361084.5	37	c.99G>A	CCDS41413.1																																																																																				0.582	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			33	41	0	0	0	1	0	33	41				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			57	6	0	0	0	1	0	57	6				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(364-366)gaT>gaG		deltex homolog 1 (Drosophila)							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	869	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			5	80	0	0	0	1	0	5	80				
PYCR1	5831	broad.mit.edu	37	17	79892829	79892829	+	Silent	SNP	C	C	T	rs375473975		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:79892829C>T	ENST00000329875.8	-	4	577	c.513G>A	c.(511-513)acG>acA	p.T171T	PYCR1_ENST00000402252.2_Silent_p.T198T|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000337943.5_Silent_p.T171T|PYCR1_ENST00000577756.1_Silent_p.T171T|PYCR1_ENST00000403172.4_Silent_p.T171T	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	171					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CACTGAGCCCCGTGACGGCAT	0.697																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(511-513)acG>acA		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)	C	,	1,4405	2.1+/-5.4	0,1,2202	40.0	35.0	36.0		513,513	-7.9	1.0	17		36	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PYCR1	NM_006907.2,NM_153824.1	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	171/320,171/317	79892829	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892829C>T		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.513G>A	17.37:g.79892829C>T						PYCR1_ENST00000403172.4_Silent_p.T171T|PYCR1_ENST00000402252.2_Silent_p.T198T|PYCR1_ENST00000577756.1_Silent_p.T171T|PYCR1_ENST00000329875.8_Silent_p.T171T	p.T171T	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	955	-	all_neural(118;0.0878)|Ovarian(332;0.12)		171					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	ENST00000329875.8	37	c.513G>A	CCDS11795.1																																																																																				0.697	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			17	29	0	0	0	1	0	17	29				
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1204)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)tCc>tGc		fibroblast growth factor receptor 3	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C	p.S249C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		15	17	0	0	0	1	0	15	17				
THAP10	56906	broad.mit.edu	37	15	71174804	71174804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:71174804C>T	ENST00000249861.4	-	3	1275	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	255							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAACATGTTTCTTCTTTCACC	0.333																																						ENST00000249861.4																			0				NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(763-765)Gaa>Aaa		THAP domain containing 10							160.0	158.0	159.0					15																	71174804		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71174804C>T	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.763G>A	15.37:g.71174804C>T	ENSP00000249861:p.Glu255Lys					LRRC49_ENST00000544974.2_Intron	p.E255K	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN			3	1275	-			255					B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.763G>A	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454853	0.26161	.	.	ENSG00000129028	ENST00000249861	.	.	.	3.59	1.63	0.23807	.	.	.	.	.	T	0.17023	0.0409	N	0.08118	0	0.22199	N	0.9993	B	0.28900	0.227	B	0.22152	0.038	T	0.17228	-1.0376	8	0.87932	D	0	.	5.8313	0.18582	0.0:0.7453:0.0:0.2547	.	255	Q9P2Z0	THA10_HUMAN	K	255	.	ENSP00000249861:E255K	E	-	1	0	THAP10	68961858	0.477000	0.25909	0.137000	0.22149	0.719000	0.41307	0.169000	0.16641	0.311000	0.23014	0.557000	0.71058	GAA		0.333	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		87	106	0	0	0	1	0	87	106				
NEO1	4756	broad.mit.edu	37	15	73575381	73575381	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:73575381C>T	ENST00000339362.5	+	24	3786	c.3339C>T	c.(3337-3339)ggC>ggT	p.G1113G	NEO1_ENST00000558964.1_Silent_p.G1102G|NEO1_ENST00000261908.6_Silent_p.G1113G|NEO1_ENST00000560262.1_Silent_p.G1113G			Q92859	NEO1_HUMAN	neogenin 1	1113					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G1113G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTCTGTTGGCGTCATCACCA	0.498																																						ENST00000339362.5																			1	Substitution - coding silent(1)	p.G1113G(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3337-3339)ggC>ggT		neogenin 1							285.0	271.0	276.0					15																	73575381		2198	4297	6495	SO:0001819	synonymous_variant	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73575381C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3339C>T	15.37:g.73575381C>T						NEO1_ENST00000558964.1_Silent_p.G1102G|NEO1_ENST00000261908.6_Silent_p.G1113G|NEO1_ENST00000560262.1_Silent_p.G1113G	p.G1113G			Q92859	NEO1_HUMAN			24	3786	+			1113					B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	c.3339C>T	CCDS10247.1																																																																																				0.498	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		116	199	0	0	0	1	0	116	199				
APP	351	broad.mit.edu	37	21	27354743	27354743	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:27354743C>T	ENST00000346798.3	-	9	1171	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	APP_ENST00000358918.3_Missense_Mutation_p.E380K|APP_ENST00000448388.2_Missense_Mutation_p.E270K|APP_ENST00000354192.3_Missense_Mutation_p.E249K|APP_ENST00000359726.3_Missense_Mutation_p.E324K|APP_ENST00000357903.3_Missense_Mutation_p.E361K|APP_ENST00000440126.3_Missense_Mutation_p.E356K|APP_ENST00000439274.2_Missense_Mutation_p.E324K|APP_ENST00000348990.5_Missense_Mutation_p.E305K	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	380					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCAGGTGTCTCGAGATACTTG	0.473																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1138-1140)Gag>Aag		amyloid beta (A4) precursor protein							106.0	92.0	97.0					21																	27354743		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27354743C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1138G>A	21.37:g.27354743C>T	ENSP00000284981:p.Glu380Lys					APP_ENST00000448388.2_Missense_Mutation_p.E270K|APP_ENST00000440126.3_Missense_Mutation_p.E356K|APP_ENST00000439274.2_Missense_Mutation_p.E324K|APP_ENST00000346798.3_Missense_Mutation_p.E380K|APP_ENST00000359726.3_Missense_Mutation_p.E324K|APP_ENST00000357903.3_Missense_Mutation_p.E361K|APP_ENST00000354192.3_Missense_Mutation_p.E249K|APP_ENST00000348990.5_Missense_Mutation_p.E305K	p.E380K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			9	1337	-		Breast(209;0.00295)	380					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1138G>A	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.0|29.0	4.968297|4.968297	0.92855|0.92855	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;T;T;T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Amyloidogenic glycoprotein, E2 domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72716|0.72716	0.3495|0.3495	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.992;1.0;0.99;0.99;0.99|.	D;D;D;D;D;D;P|.	0.87578|.	0.998;0.914;0.979;0.997;0.964;0.964;0.9|.	T|T	0.68880|0.68880	-0.5292|-0.5292	10|5	0.59425|.	D|.	0.04|.	-30.3638|-30.3638	19.0662|19.0662	0.93113|0.93113	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	270;324;356;249;305;361;380|.	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;A4_HUMAN|.	K|Q	380;249;305;361;380;324;270;356;324|282;114	ENSP00000284981:E380K;ENSP00000346129:E249K;ENSP00000345463:E305K;ENSP00000350578:E361K;ENSP00000351796:E380K;ENSP00000352760:E324K;ENSP00000388538:E270K;ENSP00000387483:E356K;ENSP00000398879:E324K|.	ENSP00000284981:E380K|.	E|R	-|-	1|2	0|0	APP|APP	26276614|26276614	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.840000|0.840000	0.47671|0.47671	7.320000|7.320000	0.79064|0.79064	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.473	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		28	45	0	0	0	1	0	28	45				
PRICKLE2	166336	broad.mit.edu	37	3	64084813	64084813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:64084813C>T	ENST00000295902.6	-	8	3034	c.2449G>A	c.(2449-2451)Ggc>Agc	p.G817S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G873S|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	817					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TTGGGGAGGCCGTAGGAGCTG	0.502																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2449-2451)Ggc>Agc		prickle homolog 2 (Drosophila)							97.0	94.0	95.0					3																	64084813		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084813C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2449G>A	3.37:g.64084813C>T	ENSP00000295902:p.Gly817Ser					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G873S	p.G817S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	3034	-		Lung NSC(201;0.136)	817					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2449G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783469	0.31593	.	.	ENSG00000163637	ENST00000295902	D	0.86164	-2.08	5.63	5.63	0.86233	.	0.078088	0.53938	D	0.000047	T	0.74612	0.3739	L	0.28115	0.83	0.52501	D	0.999954	B	0.31125	0.309	B	0.21546	0.035	T	0.70414	-0.4878	10	0.07990	T	0.79	-39.5191	10.7335	0.46111	0.0:0.885:0.0:0.115	.	817	Q7Z3G6	PRIC2_HUMAN	S	817	ENSP00000295902:G817S	ENSP00000295902:G817S	G	-	1	0	PRICKLE2	64059853	0.997000	0.39634	0.947000	0.38551	0.909000	0.53808	2.683000	0.46943	2.663000	0.90544	0.655000	0.94253	GGC		0.502	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		45	9	0	0	0	1	0	45	9				
FCRL5	83416	broad.mit.edu	37	1	157504594	157504594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:157504594C>G	ENST00000361835.3	-	8	1648	c.1491G>C	c.(1489-1491)caG>caC	p.Q497H	FCRL5_ENST00000356953.4_Missense_Mutation_p.Q497H|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q412H|FCRL5_ENST00000368190.3_Missense_Mutation_p.Q497H|FCRL5_ENST00000368189.3_Missense_Mutation_p.Q497H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	497	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGAACCTCTCTGGACTTCAC	0.527																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1489-1491)caG>caC		Fc receptor-like 5							56.0	54.0	55.0					1																	157504594		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504594C>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1491G>C	1.37:g.157504594C>G	ENSP00000354691:p.Gln497His					FCRL5_ENST00000368190.3_Missense_Mutation_p.Q497H|FCRL5_ENST00000368189.3_Missense_Mutation_p.Q497H|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q497H|FCRL5_ENST00000368191.3_Missense_Mutation_p.Q412H	p.Q497H	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			8	1648	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	497			Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1491G>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	4.869	0.161524	0.09287	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	3.34	-0.506	0.11989	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05960	0.0155	L	0.55990	1.75	0.09310	N	1	P;B;B;B;B;B	0.36974	0.576;0.163;0.096;0.063;0.04;0.015	B;B;B;B;B;B	0.42422	0.387;0.137;0.072;0.043;0.03;0.043	T	0.34079	-0.9843	9	0.37606	T	0.19	.	6.7178	0.23312	0.1715:0.286:0.5425:0.0	.	528;412;497;497;497;497	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	H	497;497;497;412;497	ENSP00000354691:Q497H;ENSP00000349434:Q497H;ENSP00000357173:Q497H;ENSP00000357174:Q412H;ENSP00000357172:Q497H	ENSP00000349434:Q497H	Q	-	3	2	FCRL5	155771218	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.801000	0.01743	-0.115000	0.11915	0.313000	0.20887	CAG		0.527	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		23	24	0	0	0	1	0	23	24				
OPN3	23596	broad.mit.edu	37	1	241761296	241761296	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:241761296G>A	ENST00000366554.2	-	3	803	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.R154C	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	233					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCACACAACGAAGCTGCAGA	0.353																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(697-699)Cgt>Tgt		opsin 3							45.0	46.0	46.0					1																	241761296		2201	4300	6501	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241761296G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.697C>T	1.37:g.241761296G>A	ENSP00000355512:p.Arg233Cys					OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Missense_Mutation_p.R154C	p.R233C	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		3	803	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	233					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.697C>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855459	0.71719	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.66815	1.04;-0.23	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.081517	0.51477	U	0.000095	D	0.85457	0.5701	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87893	0.2685	10	0.42905	T	0.14	.	17.2812	0.87129	0.0:0.0:1.0:0.0	.	233	Q9H1Y3	OPN3_HUMAN	C	233;154	ENSP00000355512:R233C;ENSP00000328018:R154C	ENSP00000328018:R154C	R	-	1	0	OPN3	239827919	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	8.399000	0.90197	2.236000	0.73375	0.655000	0.94253	CGT		0.353	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		17	20	0	0	0	1	0	17	20				
C2orf16	84226	broad.mit.edu	37	2	27803325	27803325	+	Nonsense_Mutation	SNP	C	C	T	rs530926787		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:27803325C>T	ENST00000408964.2	+	1	3937	c.3886C>T	c.(3886-3888)Cga>Tga	p.R1296*	ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1296						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATCACCAAGCGACTTAGAAA	0.408																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3886-3888)Cga>Tga		chromosome 2 open reading frame 16							83.0	79.0	80.0					2																	27803325		1827	4090	5917	SO:0001587	stop_gained	84226							g.chr2:27803325C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3886C>T	2.37:g.27803325C>T	ENSP00000386190:p.Arg1296*						p.R1296*	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3937	+	Acute lymphoblastic leukemia(172;0.155)		1296					B9EIQ4|Q53S01|Q8ND64|Q9H088	Nonsense_Mutation	SNP	ENST00000408964.2	37	c.3886C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	38	7.124798	0.98081	.	.	ENSG00000221843	ENST00000408964	.	.	.	5.31	-1.44	0.08856	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	1.8595	0.03186	0.4692:0.1377:0.2527:0.1404	.	.	.	.	X	1296	.	ENSP00000386190:R1296X	R	+	1	2	C2orf16	27656829	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.034000	0.13776	-0.689000	0.05149	-0.215000	0.12644	CGA		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		40	63	0	0	0	1	0	40	63				
SARDH	1757	broad.mit.edu	37	9	136536697	136536697	+	Silent	SNP	G	G	A	rs373435029		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr9:136536697G>A	ENST00000371872.4	-	18	2543	c.2286C>T	c.(2284-2286)aaC>aaT	p.N762N	SARDH_ENST00000422262.2_Silent_p.N594N|SARDH_ENST00000439388.1_Silent_p.N762N|SARDH_ENST00000371868.1_Silent_p.N190N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	762					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGTACCCTGCGTTGATGAGGC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16395	0.0		0.0	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2284-2286)aaC>aaT		sarcosine dehydrogenase		G	,	1,4397	2.1+/-5.4	0,1,2198	42.0	33.0	36.0		2286,2286	-8.4	0.1	9		36	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	0,3,6490	AA,AG,GG		0.0233,0.0227,0.0231	,	762/919,762/919	136536697	3,12983	2199	4294	6493	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136536697G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2286C>T	9.37:g.136536697G>A						SARDH_ENST00000371868.1_Silent_p.N190N|SARDH_ENST00000439388.1_Silent_p.N762N|SARDH_ENST00000422262.2_Silent_p.N594N	p.N762N	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	18	2543	-			762					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.2286C>T	CCDS6978.1																																																																																				0.672	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			8	5	0	0	0	1	0	8	5				
ORC6	23594	broad.mit.edu	37	16	46731384	46731384	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:46731384G>A	ENST00000219097.2	+	7	706	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000566860.1_Missense_Mutation_p.E167K|ORC6_ENST00000568364.2_3'UTR	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	216					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GGAGAAGGTAGAGGAGATGCC	0.318																																						ENST00000566860.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(499-501)Gag>Aag		origin recognition complex, subunit 6							54.0	53.0	53.0					16																	46731384		2203	4300	6503	SO:0001583	missense	23594				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding	g.chr16:46731384G>A	AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"""origin recognition complex, subunit 6 homolog-like (yeast)"", ""origin recognition complex, subunit 6 like (yeast)"""	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.646G>A	16.37:g.46731384G>A	ENSP00000219097:p.Glu216Lys					ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000219097.2_Missense_Mutation_p.E216K	p.E167K			Q9Y5N6	ORC6_HUMAN			6	786	+			216					B3KN89	Missense_Mutation	SNP	ENST00000219097.2	37	c.499G>A	CCDS10722.1	.	.	.	.	.	.	.	.	.	.	G	3.096	-0.185841	0.06340	.	.	ENSG00000091651	ENST00000219097	T	0.63913	-0.07	6.07	-0.515	0.11954	.	1.622110	0.02946	N	0.141037	T	0.44074	0.1276	N	0.19112	0.55	0.09310	N	1	B	0.23937	0.094	B	0.15870	0.014	T	0.27331	-1.0077	10	0.06494	T	0.89	.	10.6157	0.45449	0.3836:0.0:0.6164:0.0	.	216	Q9Y5N6	ORC6_HUMAN	K	216	ENSP00000219097:E216K	ENSP00000219097:E216K	E	+	1	0	ORC6	45288885	0.082000	0.21442	0.000000	0.03702	0.003000	0.03518	2.253000	0.43205	-0.046000	0.13446	-0.793000	0.03317	GAG		0.318	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255739.3			21	20	0	0	0	1	0	21	20				
GALR2	8811	broad.mit.edu	37	17	74072784	74072784	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:74072784A>G	ENST00000329003.3	+	2	526	c.436A>G	c.(436-438)Atc>Gtc	p.I146V	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	146					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGCAGCCATCGGGCTCAT	0.682																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(436-438)Atc>Gtc		galanin receptor 2							23.0	26.0	25.0					17																	74072784		2202	4294	6496	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74072784A>G	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.436A>G	17.37:g.74072784A>G	ENSP00000329684:p.Ile146Val						p.I146V	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	526	+			146					A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.436A>G	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.377130	0.24944	.	.	ENSG00000182687	ENST00000329003	T	0.74421	-0.84	4.93	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.069274	0.56097	D	0.000038	T	0.61862	0.2381	L	0.37561	1.115	0.45883	D	0.998733	P	0.36599	0.56	B	0.40659	0.336	T	0.57318	-0.7832	10	0.02654	T	1	.	10.1726	0.42920	0.9199:0.0:0.0801:0.0	.	146	O43603	GALR2_HUMAN	V	146	ENSP00000329684:I146V	ENSP00000329684:I146V	I	+	1	0	GALR2	71584379	1.000000	0.71417	0.978000	0.43139	0.869000	0.49853	9.210000	0.95106	0.738000	0.32606	0.379000	0.24179	ATC		0.682	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			18	22	0	0	0	1	0	18	22				
HAPLN3	145864	broad.mit.edu	37	15	89422472	89422472	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr15:89422472G>A	ENST00000359595.3	-	4	736	c.522C>T	c.(520-522)aaC>aaT	p.N174N	HAPLN3_ENST00000562889.1_Silent_p.N236N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	174	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.N174N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GGTAGCGCCCGTTGGGGGACT	0.657											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359595.3																			1	Substitution - coding silent(1)	p.N174N(1)	ovary(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(520-522)aaC>aaT		hyaluronan and proteoglycan link protein 3							39.0	45.0	43.0					15																	89422472		2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89422472G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.522C>T	15.37:g.89422472G>A			OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1267	HAPLN3_ENST00000562889.1_Silent_p.N236N	p.N174N	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			4	736	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		174			Link 1.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.522C>T	CCDS10346.1																																																																																				0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		29	39	0	0	0	1	0	29	39				
MED12L	116931	broad.mit.edu	37	3	151094797	151094797	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:151094797G>A	ENST00000474524.1	+	28	4080	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.E1208K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1348						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTGTGGCCGAAATGAACAA	0.373																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4042-4044)Gaa>Aaa		mediator complex subunit 12-like							78.0	77.0	78.0					3																	151094797		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151094797G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4042G>A	3.37:g.151094797G>A	ENSP00000417235:p.Glu1348Lys					MED12L_ENST00000273432.4_Missense_Mutation_p.E1208K|P2RY12_ENST00000302632.3_Intron	p.E1348K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		28	4080	+			1348					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4042G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	36	5.726308	0.96847	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.64618	0.07;-0.11	5.67	5.67	0.87782	.	0.053268	0.85682	D	0.000000	T	0.79470	0.4451	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74023	0.973;0.982;0.972	T	0.80826	-0.1209	10	0.87932	D	0	-27.5918	19.3607	0.94436	0.0:0.0:1.0:0.0	.	1208;1347;1348	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	K	1348;1208	ENSP00000417235:E1348K;ENSP00000273432:E1208K	ENSP00000273432:E1208K	E	+	1	0	MED12L	152577487	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.072000	0.76777	2.649000	0.89929	0.655000	0.94253	GAA		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	176	0	0	0	1	0	4	176				
ECEL1	9427	broad.mit.edu	37	2	233346260	233346260	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:233346260A>G	ENST00000304546.1	-	14	2155	c.1945T>C	c.(1945-1947)Tgc>Cgc	p.C649R	ECEL1_ENST00000409941.1_Missense_Mutation_p.C647R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	649					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGGACGATGCACTCAGCCTTT	0.652																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1945-1947)Tgc>Cgc		endothelin converting enzyme-like 1							71.0	68.0	69.0					2																	233346260		2203	4300	6503	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346260A>G	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1945T>C	2.37:g.233346260A>G	ENSP00000302051:p.Cys649Arg					ECEL1_ENST00000409941.1_Missense_Mutation_p.C647R	p.C649R	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	14	2155	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	649					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1945T>C	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034740	0.75617	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.87334	-2.24;-2.24;-2.24	5.21	5.21	0.72293	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.046753	0.85682	D	0.000000	D	0.94182	0.8133	M	0.89163	3.01	0.80722	D	1	D;P	0.76494	0.999;0.878	D;P	0.72625	0.978;0.664	D	0.95247	0.8356	10	0.87932	D	0	-0.0366	15.4521	0.75282	1.0:0.0:0.0:0.0	.	647;649	O95672-2;O95672	.;ECEL1_HUMAN	R	64;649;647	ENSP00000412683:C64R;ENSP00000302051:C649R;ENSP00000386333:C647R	ENSP00000302051:C649R	C	-	1	0	ECEL1	233054504	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.440000	0.80464	2.114000	0.64651	0.456000	0.33151	TGC		0.652	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		9	15	0	0	0	1	0	9	15				
GRAMD1C	54762	broad.mit.edu	37	3	113563371	113563371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:113563371A>G	ENST00000358160.4	+	2	541	c.49A>G	c.(49-51)Agc>Ggc	p.S17G	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	17						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGGGGATTCAAGCCTTGCCAC	0.348																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(49-51)Agc>Ggc		GRAM domain containing 1C							119.0	122.0	121.0					3																	113563371		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113563371A>G		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.49A>G	3.37:g.113563371A>G	ENSP00000350881:p.Ser17Gly					GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	p.S17G	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN			2	541	+			17					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.49A>G	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642958	0.29246	.	.	ENSG00000178075	ENST00000358160	T	0.34472	1.36	5.47	3.15	0.36227	.	8.458740	0.00465	N	0.000108	T	0.26593	0.0650	N	0.24115	0.695	0.25589	N	0.986717	B	0.06786	0.001	B	0.06405	0.002	T	0.14282	-1.0478	10	0.20519	T	0.43	.	6.77	0.23589	0.8429:0.0:0.1571:0.0	.	17	Q8IYS0	GRM1C_HUMAN	G	17	ENSP00000350881:S17G	ENSP00000350881:S17G	S	+	1	0	GRAMD1C	115046061	0.609000	0.26975	0.966000	0.40874	0.444000	0.32077	1.417000	0.34770	2.087000	0.62958	0.533000	0.62120	AGC		0.348	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		5	331	0	0	0	1	0	5	331				
POMGNT1	55624	broad.mit.edu	37	1	46656424	46656424	+	Silent	SNP	C	C	T	rs201897676		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:46656424C>T	ENST00000371984.3	-	18	1729	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	POMGNT1_ENST00000535522.1_Silent_p.T502T|POMGNT1_ENST00000371992.1_Silent_p.T524T|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Silent_p.T524T|POMGNT1_ENST00000485714.1_5'UTR	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	524					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CACCTGGAACCGTGTTGAACT	0.552																																						ENST00000371992.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1570-1572)acG>acA		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							125.0	110.0	115.0					1																	46656424		2203	4300	6503	SO:0001819	synonymous_variant	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46656424C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1572G>A	1.37:g.46656424C>T						POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Silent_p.T502T|POMGNT1_ENST00000371986.3_Silent_p.T524T|POMGNT1_ENST00000371984.3_Silent_p.T524T	p.T524T	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN			18	2222	-	Acute lymphoblastic leukemia(166;0.155)		524					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Silent	SNP	ENST00000371984.3	37	c.1572G>A	CCDS531.1																																																																																				0.552	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		8	70	0	0	0	1	0	8	70				
FAM71B	153745	broad.mit.edu	37	5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:156592869C>T	ENST00000302938.4	-	1	406	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	104						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)			CTTGGCAAACCGGCCCCATCT	0.542																																						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.(310-312)cGg>cAg		family with sequence similarity 71, member B							70.0	71.0	71.0					5																	156592869		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592869C>T		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.311G>A	5.37:g.156592869C>T	ENSP00000305596:p.Arg104Gln						p.R104Q	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	406	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	104					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.311G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898328	0.02472	.	.	ENSG00000170613	ENST00000302938	T	0.03607	3.87	4.67	1.82	0.25136	.	1.041460	0.07653	N	0.932348	T	0.01421	0.0046	N	0.01800	-0.715	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47368	-0.9123	10	0.08179	T	0.78	-0.9076	4.2326	0.10610	0.0:0.6016:0.1924:0.206	.	104	Q8TC56	FA71B_HUMAN	Q	104	ENSP00000305596:R104Q	ENSP00000305596:R104Q	R	-	2	0	FAM71B	156525447	0.000000	0.05858	0.028000	0.17463	0.160000	0.22226	-0.281000	0.08456	0.619000	0.30197	0.563000	0.77884	CGG		0.542	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		13	54	0	0	0	1	0	13	54				
CLDN17	26285	broad.mit.edu	37	21	31538328	31538328	+	Missense_Mutation	SNP	C	C	T	rs563734261		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:31538328C>T	ENST00000286808.3	-	1	643	c.608G>A	c.(607-609)cGt>cAt	p.R203H		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	203					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTGTGGCACACGGTAGCCAGG	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21038	0.0		0.0	False		,,,				2504	0.0					ENST00000286808.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(607-609)cGt>cAt		claudin 17							226.0	212.0	217.0					21																	31538328		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538328C>T	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.608G>A	21.37:g.31538328C>T	ENSP00000286808:p.Arg203His						p.R203H	NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN			1	643	-			203					Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.608G>A	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666195	0.14710	.	.	ENSG00000156282	ENST00000286808	T	0.60920	0.15	4.63	-3.04	0.05412	.	1.892790	0.02722	N	0.114103	T	0.30792	0.0776	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10200	-1.0640	10	0.12103	T	0.63	.	3.736	0.08511	0.1022:0.1503:0.4476:0.2999	.	203	P56750	CLD17_HUMAN	H	203	ENSP00000286808:R203H	ENSP00000286808:R203H	R	-	2	0	CLDN17	30460199	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.053000	0.11846	-0.619000	0.05648	-0.165000	0.13383	CGT		0.488	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		28	36	0	0	0	1	0	28	36				
PKHD1	5314	broad.mit.edu	37	6	51908510	51908510	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:51908510C>T	ENST00000371117.3	-	26	3009	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D912N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	912					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTGGTACATCATTCACTCGC	0.433																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2734-2736)Gat>Aat		polycystic kidney and hepatic disease 1 (autosomal recessive)							149.0	124.0	132.0					6																	51908510		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51908510C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2734G>A	6.37:g.51908510C>T	ENSP00000360158:p.Asp912Asn					PKHD1_ENST00000340994.4_Missense_Mutation_p.D912N	p.D912N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			26	3009	-	Lung NSC(77;0.0605)		912					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2734G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.809978	0.70797	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.99;-2.19	6.03	6.03	0.97812	.	0.205916	0.42294	D	0.000736	D	0.87313	0.6146	M	0.65320	2	0.30239	N	0.795229	D;D	0.76494	0.997;0.999	D;D	0.66196	0.931;0.942	T	0.80654	-0.1286	10	0.11485	T	0.65	.	14.8265	0.70117	0.1444:0.8556:0.0:0.0	.	912;912	P08F94-2;P08F94	.;PKHD1_HUMAN	N	912	ENSP00000360158:D912N;ENSP00000341097:D912N	ENSP00000341097:D912N	D	-	1	0	PKHD1	52016469	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	4.802000	0.62539	2.861000	0.98227	0.655000	0.94253	GAT		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	38	0	0	0	1	0	21	38				
MYO3B	140469	broad.mit.edu	37	2	171240291	171240291	+	Silent	SNP	T	T	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:171240291T>A	ENST00000408978.4	+	12	1400	c.1257T>A	c.(1255-1257)gcT>gcA	p.A419A	MYO3B_ENST00000409044.3_Silent_p.A419A|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.A428A	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	419	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAGATGCTGCTTACCAGTGCA	0.453																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1282-1284)gcT>gcA		myosin IIIB							126.0	118.0	121.0					2																	171240291		1975	4150	6125	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240291T>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1257T>A	2.37:g.171240291T>A						MYO3B_ENST00000408978.4_Silent_p.A419A|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.A419A	p.A428A			Q8WXR4	MYO3B_HUMAN			12	1284	+			419			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.1284T>A	CCDS42773.1																																																																																				0.453	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			4	103	0	0	0	1	0	4	103				
SCAF8	22828	broad.mit.edu	37	6	155145426	155145426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:155145426C>A	ENST00000367178.3	+	17	2561	c.1985C>A	c.(1984-1986)tCg>tAg	p.S662*	SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S662*|RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S728*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	662	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTCCTGTGTCGATGCCGGTT	0.458																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(1984-1986)tCg>tAg		SR-related CTD-associated factor 8							196.0	191.0	193.0					6																	155145426		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155145426C>A	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1985C>A	6.37:g.155145426C>A	ENSP00000356146:p.Ser662*					SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S728*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S662*	p.S662*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			17	2561	+			662			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.1985C>A	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	39	7.854799	0.98528	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.27	5.27	0.74061	.	0.332562	0.24488	U	0.038085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8836	0.92367	0.0:1.0:0.0:0.0	.	.	.	.	X	662;662;728	.	ENSP00000356146:S662X	S	+	2	0	SCAF8	155187118	1.000000	0.71417	0.977000	0.42913	0.955000	0.61496	7.205000	0.77881	2.454000	0.82982	0.650000	0.86243	TCG		0.458	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		70	56	1	0	4.79706e-38	1	5.16607e-38	70	56				
C7orf62	219557	broad.mit.edu	37	7	88423687	88423687	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:88423687T>G	ENST00000297203.2	-	2	755	c.570A>C	c.(568-570)aaA>aaC	p.K190N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	190										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAGTGCCTACTTTCATAGTCT	0.433																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(568-570)aaA>aaC		chromosome 7 open reading frame 62							193.0	155.0	168.0					7																	88423687		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423687T>G	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.570A>C	7.37:g.88423687T>G	ENSP00000297203:p.Lys190Asn					ZNF804B_ENST00000333190.4_Intron	p.K190N	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	755	-			190						Missense_Mutation	SNP	ENST00000297203.2	37	c.570A>C	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.257646	0.59321	.	.	ENSG00000164645	ENST00000297203	T	0.17054	2.3	6.17	2.57	0.30868	.	0.157753	0.56097	D	0.000032	T	0.36054	0.0953	M	0.74881	2.28	0.29566	N	0.850294	D	0.89917	1.0	D	0.91635	0.999	T	0.18178	-1.0345	10	0.87932	D	0	-12.509	6.638	0.22893	0.0:0.2835:0.0:0.7164	.	190	Q8TBZ9	CG062_HUMAN	N	190	ENSP00000297203:K190N	ENSP00000297203:K190N	K	-	3	2	C7orf62	88261623	1.000000	0.71417	0.988000	0.46212	0.620000	0.37586	0.965000	0.29319	0.556000	0.29098	0.533000	0.62120	AAA		0.433	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		58	71	0	0	0	1	0	58	71				
ATP1A2	477	broad.mit.edu	37	1	160099958	160099958	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:160099958C>T	ENST00000361216.3	+	12	1617	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R510C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	510					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCCAGAGCGCATTCTGGA	0.587																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1528-1530)Cgc>Tgc		ATPase, Na+/K+ transporting, alpha 2 polypeptide							78.0	77.0	77.0					1																	160099958		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160099958C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1528C>T	1.37:g.160099958C>T	ENSP00000354490:p.Arg510Cys					ATP1A2_ENST00000392233.3_Missense_Mutation_p.R510C|ATP1A2_ENST00000472488.1_3'UTR	p.R510C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		12	1617	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		510					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1528C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753806	0.69648	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	T;T	0.80653	-1.4;-1.4	4.61	3.63	0.41609	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87137	0.2200	10	0.87932	D	0	.	11.7889	0.52057	0.2833:0.7167:0.0:0.0	.	510;410;510	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	C	510;510;213	ENSP00000354490:R510C;ENSP00000376066:R510C	ENSP00000354490:R510C	R	+	1	0	ATP1A2	158366582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.776000	0.26704	2.283000	0.76528	0.511000	0.50034	CGC		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		9	115	0	0	0	1	0	9	115				
ZIC1	7545	broad.mit.edu	37	3	147128361	147128361	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:147128361G>A	ENST00000282928.4	+	1	1191	c.462G>A	c.(460-462)gcG>gcA	p.A154A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	154					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCGGCCACGCGTCGCCTAACG	0.716																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(460-462)gcG>gcA		Zic family member 1							16.0	20.0	19.0					3																	147128361		2198	4296	6494	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128361G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.462G>A	3.37:g.147128361G>A							p.A154A	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1191	+			154					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.462G>A	CCDS3136.1																																																																																				0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		8	48	0	0	0	1	0	8	48				
PKD1	5310	broad.mit.edu	37	16	2150560	2150560	+	Silent	SNP	C	C	T	rs144910188	byFrequency	TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:2150560C>T	ENST00000262304.4	-	27	9613	c.9405G>A	c.(9403-9405)acG>acA	p.T3135T	PKD1_ENST00000423118.1_Silent_p.T3135T|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3135	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGTGGGCCGTGGTACCTG	0.657																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9403-9405)acG>acA		polycystic kidney disease 1 (autosomal dominant)		C	,	1,4383		0,1,2191	24.0	25.0	25.0		9405,9405	-9.0	0.4	16	dbSNP_134	25	0,8568		0,0,4284	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,1,6475	TT,TC,CC		0.0,0.0228,0.0077	,	3135/4303,3135/4304	2150560	1,12951	2192	4284	6476	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2150560C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9405G>A	16.37:g.2150560C>T						PKD1_ENST00000423118.1_Silent_p.T3135T	p.T3135T	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			27	9613	-			3135			PLAT.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.9405G>A	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	19	0	0	0	1	0	14	19				
BBS1	582	broad.mit.edu	37	11	66281968	66281968	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:66281968C>T	ENST00000318312.7	+	4	302	c.251C>T	c.(250-252)gCt>gTt	p.A84V	BBS1_ENST00000455748.2_Missense_Mutation_p.A84V|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.A84V|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A121V|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	84					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCGCTACCTGCTCTGCCAGCT	0.607									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(361-363)gCt>gTt									132.0	136.0	135.0					11																	66281968		2200	4295	6495	SO:0001583	missense	582		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66281968C>T	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.251C>T	11.37:g.66281968C>T	ENSP00000317469:p.Ala84Val					BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.A84V|BBS1_ENST00000455748.2_Missense_Mutation_p.A84V|BBS1_ENST00000393994.2_Missense_Mutation_p.A84V	p.A121V							4	440	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.362C>T	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926916	0.34002	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000526815;ENST00000455748;ENST00000393994	D;D;D;D;D	0.90385	-2.66;-2.66;-1.95;-2.66;-2.66	5.09	0.506	0.16961	.	.	.	.	.	D	0.83709	0.5313	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.31599	0.302;0.302;0.216;0.33	B;B;B;B	0.32864	0.099;0.154;0.049;0.079	T	0.77051	-0.2731	9	0.59425	D	0.04	.	8.7018	0.34329	0.5506:0.313:0.1363:0.0	.	84;84;84;121	E7EQH1;Q32MM9;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	V	121;84;54;84;84	ENSP00000398526:A121V;ENSP00000317469:A84V;ENSP00000436860:A54V;ENSP00000405764:A84V;ENSP00000377563:A84V	ENSP00000317469:A84V	A	+	2	0	BBS1;CTD-3074O7.11	66038544	1.000000	0.71417	0.132000	0.22025	0.247000	0.25773	3.808000	0.55598	0.203000	0.20529	0.558000	0.71614	GCT		0.607	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			95	143	0	0	0	1	0	95	143				
MPP7	143098	broad.mit.edu	37	10	28413037	28413037	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:28413037G>A	ENST00000375732.1	-	8	797	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	MPP7_ENST00000445954.2_Missense_Mutation_p.H55Y|MPP7_ENST00000337532.5_Missense_Mutation_p.H180Y|MPP7_ENST00000375719.3_Missense_Mutation_p.H180Y|MPP7_ENST00000540098.1_Missense_Mutation_p.H180Y|MPP7_ENST00000481244.1_5'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	180	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCACCAACATGAATAAGACCT	0.363																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(538-540)Cat>Tat		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							96.0	94.0	95.0					10																	28413037		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28413037G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.538C>T	10.37:g.28413037G>A	ENSP00000364884:p.His180Tyr					MPP7_ENST00000540098.1_Missense_Mutation_p.H180Y|MPP7_ENST00000375732.1_Missense_Mutation_p.H180Y|MPP7_ENST00000445954.2_Missense_Mutation_p.H55Y|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.H180Y	p.H180Y	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			9	814	-			180			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.538C>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762615	0.69763	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000445954	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.58	5.58	0.84498	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63042	-0.6725	10	0.38643	T	0.18	.	19.9404	0.97159	0.0:0.0:1.0:0.0	.	180	Q5T2T1	MPP7_HUMAN	Y	180;180;180;180;55	ENSP00000364884:H180Y;ENSP00000337907:H180Y;ENSP00000438693:H180Y;ENSP00000364871:H180Y;ENSP00000405397:H55Y	ENSP00000337907:H180Y	H	-	1	0	MPP7	28453043	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	7.481000	0.81124	2.788000	0.95919	0.555000	0.69702	CAT		0.363	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		81	107	0	0	0	1	0	81	107				
ZNF627	199692	broad.mit.edu	37	19	11728051	11728051	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:11728051C>T	ENST00000361113.5	+	4	941	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TGAAAGGACTCACACTGGAGA	0.413																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(733-735)Cac>Tac		zinc finger protein 627							57.0	60.0	59.0					19																	11728051		2202	4298	6500	SO:0001583	missense	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11728051C>T	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.733C>T	19.37:g.11728051C>T	ENSP00000354414:p.His245Tyr					ZNF627_ENST00000588174.1_3'UTR	p.H245Y	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN			4	941	+			245					O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	c.733C>T	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	c	18.89	3.719429	0.68844	.	.	ENSG00000198551	ENST00000361113	T	0.67523	-0.27	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82222	0.4990	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83221	-0.0068	9	0.87932	D	0	.	8.6479	0.34016	0.0:1.0:0.0:0.0	.	245	Q7L945	ZN627_HUMAN	Y	245	ENSP00000354414:H245Y	ENSP00000354414:H245Y	H	+	1	0	ZNF627	11589051	0.994000	0.37717	0.271000	0.24616	0.522000	0.34438	4.189000	0.58358	1.090000	0.41315	0.313000	0.20887	CAC		0.413	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		16	75	0	0	0	1	0	16	75				
ZBTB22	9278	broad.mit.edu	37	6	33281027	33281027	+	IGR	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:33281027G>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000456592.2_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000426633.2_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000434618.2_Nonsense_Mutation_p.Q146*	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGCTCCTGCTGAGGCTCTGGC	0.622																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(436-438)Cag>Tag		TAP binding protein (tapasin)							56.0	59.0	58.0					6																	33281027		2203	4300	6503	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33281027G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281027G>A						TAPBP_ENST00000426633.2_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000475304.1_Nonsense_Mutation_p.Q146*|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000456592.2_Nonsense_Mutation_p.Q146*	p.Q146*	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			3	781	-			146					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Nonsense_Mutation	SNP	ENST00000431845.2	37	c.436C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.954833	0.97139	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741;ENST00000467025	.	.	.	4.3	4.3	0.51218	.	0.885681	0.09303	N	0.820617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.883	12.1589	0.54093	0.0:0.0:1.0:0.0	.	.	.	.	X	146;146;146;146;146;146;89	.	ENSP00000404833:Q146X	Q	-	1	0	TAPBP	33389005	0.025000	0.19082	0.373000	0.26003	0.595000	0.36748	0.828000	0.27435	2.224000	0.72417	0.544000	0.68410	CAG		0.622	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			4	36	0	0	0	1	0	4	36				
MUC4	4585	broad.mit.edu	37	3	195507316	195507316	+	Missense_Mutation	SNP	G	G	A	rs200507073		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195507316G>A	ENST00000463781.3	-	2	11594	c.11135C>T	c.(11134-11136)cCt>cTt	p.P3712L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3712L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGGTGTG	0.572																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(11134-11136)cCt>cTt		mucin 4, cell surface associated							71.0	62.0	65.0					3																	195507316		661	1591	2252	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195507316G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11135C>T	3.37:g.195507316G>A	ENSP00000417498:p.Pro3712Leu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3712L	p.P3712L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	11594	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	504					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.11135C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	8.084	0.773117	0.16051	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.57907	1.2;0.37	0.885	-1.56	0.08532	.	.	.	.	.	T	0.25494	0.0620	N	0.19112	0.55	0.09310	N	1	P	0.41524	0.753	B	0.29598	0.104	T	0.11867	-1.0570	8	.	.	.	.	5.328	0.15917	0.2604:0.0:0.7396:0.0	.	3584	E7ESK3	.	L	3712	ENSP00000417498:P3712L;ENSP00000420243:P3712L	.	P	-	2	0	MUC4	196992095	0.163000	0.22920	0.002000	0.10522	0.058000	0.15608	0.684000	0.25364	-0.535000	0.06307	0.064000	0.15345	CCT		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	13	0	0	0	1	0	7	13				
TFAP2B	7021	broad.mit.edu	37	6	50786670	50786670	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:50786670C>T	ENST00000393655.3	+	1	235	c.66C>T	c.(64-66)taC>taT	p.Y22Y	TFAP2B_ENST00000263046.4_Silent_p.Y22Y	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	22					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ATGTCAAGTACGAAGATATCT	0.453																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(64-66)taC>taT		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							110.0	91.0	97.0					6																	50786670		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50786670C>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.66C>T	6.37:g.50786670C>T						TFAP2B_ENST00000393655.3_Silent_p.Y22Y	p.Y22Y			Q92481	AP2B_HUMAN			1	232	+	Lung NSC(77;0.156)		22					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.66C>T	CCDS4934.2																																																																																				0.453	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		25	27	0	0	0	1	0	25	27				
TTN	7273	broad.mit.edu	37	2	179468696	179468696	+	Missense_Mutation	SNP	C	C	T	rs375141729		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:179468696C>T	ENST00000591111.1	-	232	50019	c.49795G>A	c.(49795-49797)Gtt>Att	p.V16599I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9300I|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V18240I|TTN_ENST00000460472.2_Missense_Mutation_p.V9175I|TTN_ENST00000342175.6_Missense_Mutation_p.V9367I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15672I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16599	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTATTTAACGCCTTCAAGC	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54718-54720)Gtt>Att		titin		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3831		0,1,1915	174.0	169.0	171.0		28099,27898,47014,27523	5.2	0.8	2		171	0,8270		0,0,4135	no	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,1,6050	TT,TC,CC		0.0,0.0261,0.0083	benign,benign,benign,benign	9367/27119,9300/27052,15672/33424,9175/26927	179468696	1,12101	1916	4135	6051	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468696C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49795G>A	2.37:g.179468696C>T	ENSP00000465570:p.Val16599Ile					TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9300I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15672I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9175I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9367I|TTN_ENST00000591111.1_Missense_Mutation_p.V16599I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.V18240I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		282	54942	-			16599			Fibronectin type-III 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54718G>A		.	.	.	.	.	.	.	.	.	.	C	13.66	2.302648	0.40795	2.61E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.06	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48447	0.1500	L	0.39692	1.235	0.34877	D	0.744218	B;B;B;B	0.28470	0.213;0.213;0.213;0.213	B;B;B;B	0.30495	0.116;0.116;0.116;0.07	T	0.61038	-0.7143	9	0.87932	D	0	.	15.5809	0.76439	0.0:0.934:0.0:0.066	.	9175;9300;9367;16599	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15672;9175;9367;9300;9175	ENSP00000343764:V15672I;ENSP00000434586:V9175I;ENSP00000340554:V9367I;ENSP00000352154:V9300I	ENSP00000340554:V9367I	V	-	1	0	TTN	179176941	1.000000	0.71417	0.764000	0.31436	0.934000	0.57294	4.557000	0.60782	1.574000	0.49760	0.650000	0.86243	GTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		82	110	0	0	0	1	0	82	110				
BAI2	576	broad.mit.edu	37	1	32205964	32205964	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:32205964G>A	ENST00000373658.3	-	12	2314	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	BAI2_ENST00000440175.2_Missense_Mutation_p.S300L|BAI2_ENST00000398556.3_Missense_Mutation_p.S606L|BAI2_ENST00000373655.2_Missense_Mutation_p.S658L|BAI2_ENST00000398542.1_Missense_Mutation_p.S591L|BAI2_ENST00000398538.1_Missense_Mutation_p.S646L|BAI2_ENST00000257070.4_Missense_Mutation_p.S658L|BAI2_ENST00000398547.1_Missense_Mutation_p.S591L|BAI2_ENST00000527361.1_Missense_Mutation_p.S658L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	658					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATCATCAGCCGAGGGCACGTA	0.597																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1972-1974)tCg>tTg		brain-specific angiogenesis inhibitor 2							39.0	38.0	39.0					1																	32205964		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32205964G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1973C>T	1.37:g.32205964G>A	ENSP00000362762:p.Ser658Leu					BAI2_ENST00000373655.2_Missense_Mutation_p.S658L|BAI2_ENST00000440175.2_Missense_Mutation_p.S300L|BAI2_ENST00000527361.1_Missense_Mutation_p.S658L|BAI2_ENST00000398538.1_Missense_Mutation_p.S646L|BAI2_ENST00000398556.3_Missense_Mutation_p.S606L|BAI2_ENST00000398542.1_Missense_Mutation_p.S591L|BAI2_ENST00000257070.4_Missense_Mutation_p.S658L|BAI2_ENST00000398547.1_Missense_Mutation_p.S591L	p.S658L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	12	2314	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	658					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1973C>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328864	0.81690	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	4.27	4.27	0.50696	Domain of unknown function DUF3497 (1);	0.207000	0.24578	N	0.037328	T	0.21718	0.0523	L	0.42245	1.32	0.37099	D	0.899826	D;D;D;D;D;D	0.65815	0.989;0.994;0.99;0.99;0.989;0.995	P;P;P;P;P;P	0.58210	0.817;0.746;0.731;0.731;0.817;0.835	T	0.05666	-1.0871	10	0.72032	D	0.01	.	16.0884	0.81073	0.0:0.0:1.0:0.0	.	658;646;300;591;658;658	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	L	606;591;658;658;591;658;658;300;646;596	ENSP00000381564:S606L;ENSP00000381555:S591L;ENSP00000362762:S658L;ENSP00000362759:S658L;ENSP00000381550:S591L;ENSP00000257070:S658L;ENSP00000435397:S658L;ENSP00000391071:S300L;ENSP00000381548:S646L;ENSP00000410921:S596L	ENSP00000257070:S658L	S	-	2	0	BAI2	31978551	1.000000	0.71417	0.982000	0.44146	0.909000	0.53808	6.273000	0.72581	2.405000	0.81733	0.456000	0.33151	TCG		0.597	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		27	21	0	0	0	1	0	27	21				
ZC3H12C	85463	broad.mit.edu	37	11	110035143	110035143	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:110035143G>C	ENST00000278590.3	+	6	1384	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D446H|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D414H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	445							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTCAGTGGCTGATGAACTCCG	0.463																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1240-1242)Gat>Cat		zinc finger CCCH-type containing 12C							46.0	48.0	47.0					11																	110035143		1925	4128	6053	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035143G>C		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1333G>C	11.37:g.110035143G>C	ENSP00000278590:p.Asp445His					ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D445H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D446H	p.D414H			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2121	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	445					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1240G>C	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371042	0.82573	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.47869	0.83;0.83;0.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.71695	-0.4515	10	0.87932	D	0	-25.4414	20.1775	0.98187	0.0:0.0:1.0:0.0	.	446;445;445	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	445;446;414	ENSP00000278590:D445H;ENSP00000431821:D446H;ENSP00000413094:D414H	ENSP00000278590:D445H	D	+	1	0	ZC3H12C	109540353	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.771000	0.95319	0.561000	0.74099	GAT		0.463	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		14	6	0	0	0	1	0	14	6				
HECA	51696	broad.mit.edu	37	6	139487755	139487755	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:139487755G>C	ENST00000367658.2	+	2	891	c.606G>C	c.(604-606)aaG>aaC	p.K202N	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	202					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		ACGAGAAAAAGAAGAAGTCTG	0.582																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(604-606)aaG>aaC		headcase homolog (Drosophila)							50.0	56.0	54.0					6																	139487755		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487755G>C	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.606G>C	6.37:g.139487755G>C	ENSP00000356630:p.Lys202Asn					RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	p.K202N	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	891	+			202						Missense_Mutation	SNP	ENST00000367658.2	37	c.606G>C	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867277	0.51588	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	4.27	0.50696	.	0.114937	0.64402	D	0.000007	T	0.46619	0.1402	L	0.27053	0.805	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.53865	-0.8378	9	0.59425	D	0.04	.	9.8061	0.40795	0.155:0.0:0.845:0.0	.	202	Q9UBI9	HDC_HUMAN	N	202	.	ENSP00000356630:K202N	K	+	3	2	HECA	139529448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.217000	0.65252	1.404000	0.46819	0.655000	0.94253	AAG		0.582	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		24	17	0	0	0	1	0	24	17				
NLRP9	338321	broad.mit.edu	37	19	56244284	56244284	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr19:56244284A>G	ENST00000332836.2	-	2	940	c.913T>C	c.(913-915)Tcg>Ccg	p.S305P		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	305	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S305T(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGAAATACGACTTCTTTTCA	0.388																																						ENST00000332836.2																			1	Substitution - Missense(1)	p.S305T(1)	lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(913-915)Tcg>Ccg		NLR family, pyrin domain containing 9							59.0	58.0	58.0					19																	56244284		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244284A>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.913T>C	19.37:g.56244284A>G	ENSP00000331857:p.Ser305Pro						p.S305P	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	940	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	305			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.913T>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	A	8.174	0.792367	0.16258	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.63913	-0.07	2.46	-2.33	0.06724	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44953	0.1318	N	0.14661	0.345	0.09310	N	1	P	0.44241	0.829	P	0.49887	0.625	T	0.35674	-0.9779	9	0.27785	T	0.31	.	3.0382	0.06129	0.2487:0.0:0.258:0.4933	.	305	Q7RTR0	NALP9_HUMAN	P	305	ENSP00000331857:S305P	ENSP00000331857:S305P	S	-	1	0	NLRP9	60936096	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.100000	0.15231	-0.338000	0.08413	-1.928000	0.00512	TCG		0.388	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		62	78	0	0	0	1	0	62	78				
UBC	7316	broad.mit.edu	37	12	125397963	125397963	+	Silent	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:125397963A>G	ENST00000538617.1	-	3	671	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	UBC_ENST00000536769.1_Silent_p.L119L|UBC_ENST00000339647.5_Silent_p.L119L|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	499	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCAAAGATCAACCTCTGCTGG	0.552																																						ENST00000536769.1																			1	Deletion - Frameshift(1)	p.G111fs*15(1)	ovary(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(355-357)Ttg>Ctg		ubiquitin C							181.0	168.0	173.0					12																	125397963		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397963A>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.355T>C	12.37:g.125397963A>G						UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.L119L|UBC_ENST00000339647.5_Silent_p.L119L	p.L119L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1931	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		119			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.355T>C																																																																																					0.552	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		5	264	0	0	0	1	0	5	264				
HLCS	3141	broad.mit.edu	37	21	38308959	38308959	+	Silent	SNP	T	T	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr21:38308959T>C	ENST00000399120.1	-	5	2016	c.786A>G	c.(784-786)gcA>gcG	p.A262A	HLCS_ENST00000336648.4_Silent_p.A262A	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	262					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTTGTGCAGTGCACCCTTGC	0.547																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(784-786)gcA>gcG		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						75.0	73.0	74.0					21																	38308959		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38308959T>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.786A>G	21.37:g.38308959T>C						HLCS_ENST00000336648.3_Silent_p.A262A	p.A262A	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	2016	-		Myeloproliferative disorder(46;0.0422)	262					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.786A>G	CCDS13647.1																																																																																				0.547	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			29	41	0	0	0	1	0	29	41				
ANK1	286	broad.mit.edu	37	8	41555570	41555570	+	Silent	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr8:41555570C>T	ENST00000347528.4	-	24	2711	c.2628G>A	c.(2626-2628)gaG>gaA	p.E876E	ANK1_ENST00000379758.2_Silent_p.E876E|ANK1_ENST00000265709.8_Silent_p.E917E|ANK1_ENST00000289734.7_Silent_p.E876E|ANK1_ENST00000396942.1_Silent_p.E876E|ANK1_ENST00000396945.1_Silent_p.E876E|ANK1_ENST00000352337.4_Silent_p.E876E	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	876					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGCTCCTGCTCTTCTGACC	0.557																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2626-2628)gaG>gaA		ankyrin 1, erythrocytic							107.0	86.0	93.0					8																	41555570		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41555570C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2628G>A	8.37:g.41555570C>T						ANK1_ENST00000347528.4_Silent_p.E876E|ANK1_ENST00000396945.1_Silent_p.E876E|ANK1_ENST00000265709.8_Silent_p.E917E|ANK1_ENST00000289734.7_Silent_p.E876E|ANK1_ENST00000379758.2_Silent_p.E876E|ANK1_ENST00000352337.4_Silent_p.E876E	p.E876E			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		24	2711	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	876					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2628G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	0.104	-1.148161	0.01714	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.64	0.645	0.17782	.	.	.	.	.	T	0.40347	0.1113	.	.	.	0.37816	D	0.928217	.	.	.	.	.	.	T	0.30297	-0.9983	4	.	.	.	.	1.0081	0.01492	0.1557:0.3665:0.142:0.3358	.	.	.	.	T	198	.	.	A	-	1	0	ANK1	41674727	0.046000	0.20272	0.335000	0.25508	0.040000	0.13550	0.242000	0.18087	0.039000	0.15632	0.555000	0.69702	GCA		0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		14	17	0	0	0	1	0	14	17				
RP1	6101	broad.mit.edu	37	8	55542844	55542844	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr8:55542844C>A	ENST00000220676.1	+	4	6550	c.6402C>A	c.(6400-6402)ttC>ttA	p.F2134L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2134					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATCTTTTCATTTGGGAAG	0.318																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6400-6402)ttC>ttA		retinitis pigmentosa 1 (autosomal dominant)							45.0	50.0	48.0					8																	55542844		2196	4293	6489	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542844C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6402C>A	8.37:g.55542844C>A	ENSP00000220676:p.Phe2134Leu						p.F2134L	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6550	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2134						Missense_Mutation	SNP	ENST00000220676.1	37	c.6402C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236635	0.39498	.	.	ENSG00000104237	ENST00000220676	T	0.29397	1.57	5.35	1.59	0.23543	.	0.156375	0.30219	N	0.010122	T	0.19604	0.0471	L	0.36672	1.1	0.24399	N	0.994717	B	0.32918	0.39	B	0.24541	0.054	T	0.13202	-1.0518	10	0.87932	D	0	.	8.2452	0.31684	0.0:0.5898:0.0:0.4102	.	2134	P56715	RP1_HUMAN	L	2134	ENSP00000220676:F2134L	ENSP00000220676:F2134L	F	+	3	2	RP1	55705397	0.071000	0.21146	0.948000	0.38648	0.072000	0.16883	0.008000	0.13197	0.267000	0.21916	-0.136000	0.14681	TTC		0.318	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	89	1	0	0.00909568	1	0.00909568	4	89				
TCHH	7062	broad.mit.edu	37	1	152082606	152082606	+	Silent	SNP	T	T	C	rs201965717		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3085-3087)gaA>gaG		trichohyalin							111.0	113.0	112.0					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	161	0	0	0	1	0	5	161				
WAC	51322	broad.mit.edu	37	10	28905158	28905158	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:28905158C>G	ENST00000354911.4	+	12	1774	c.1613C>G	c.(1612-1614)tCa>tGa	p.S538*	WAC_ENST00000375664.4_Nonsense_Mutation_p.S493*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S386*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S435*	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	538					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGTAATGCATCAAATGCAACA	0.393																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1477-1479)tCa>tGa		WW domain containing adaptor with coiled-coil							156.0	141.0	146.0					10																	28905158		2203	4300	6503	SO:0001587	stop_gained	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28905158C>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1613C>G	10.37:g.28905158C>G	ENSP00000346986:p.Ser538*					WAC_ENST00000347934.4_Nonsense_Mutation_p.S435*|WAC_ENST00000375646.1_Nonsense_Mutation_p.S386*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S538*	p.S493*			Q9BTA9	WAC_HUMAN			12	2087	+			538					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Nonsense_Mutation	SNP	ENST00000354911.4	37	c.1478C>G	CCDS7159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.328255|8.328255	0.98762|0.98762	.|.	.|.	ENSG00000095787|ENSG00000095787	ENST00000338396|ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.302938	.|0.37577	.|N	.|0.002024	T|.	0.78027|.	0.4219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79524|.	-0.1768|.	5|.	0.87932|0.62326	D|D	0|0.03	-5.4405|-5.4405	19.4637|19.4637	0.94929|0.94929	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	101|493;386;435;538	.|.	ENSP00000341462:Q101E|ENSP00000311106:S435X	Q|S	+|+	1|2	0|0	WAC|WAC	28945164|28945164	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	4.608000|4.608000	0.61141|0.61141	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.393	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		45	70	0	0	0	1	0	45	70				
OR4C3	256144	broad.mit.edu	37	11	48347444	48347444	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:48347444G>A	ENST00000319856.4	+	1	973	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGAAATGAAGAGGTAAAAAA	0.323																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(952-954)Gag>Aag		olfactory receptor, family 4, subfamily C, member 3							60.0	62.0	62.0					11																	48347444		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347444G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.952G>A	11.37:g.48347444G>A	ENSP00000321419:p.Glu318Lys						p.E318K	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	973	+			291					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.952G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360710	0.82353	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.38077	1.16	5.97	5.05	0.67936	.	0.000000	0.52532	D	0.000066	T	0.55049	0.1896	M	0.81682	2.555	0.36166	D	0.848415	P	0.46706	0.883	P	0.52424	0.698	T	0.70085	-0.4969	10	0.87932	D	0	.	14.9596	0.71147	0.0:0.1437:0.8563:0.0	.	291	Q8NH37	OR4C3_HUMAN	K	318;181	ENSP00000321419:E318K	ENSP00000321419:E318K	E	+	1	0	OR4C3	48304020	1.000000	0.71417	0.657000	0.29651	0.934000	0.57294	6.960000	0.76036	1.515000	0.48885	0.561000	0.74099	GAG		0.323	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		8	74	0	0	0	1	0	8	74				
PAOX	196743	broad.mit.edu	37	10	135203152	135203152	+	Silent	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr10:135203152G>A	ENST00000278060.5	+	6	1376	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Intron|RP11-108K14.8_ENST00000468317.2_5'Flank	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	569					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACAGCGCCCCGTACACTAGGG	0.682																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1291-1293)ccG>ccA		polyamine oxidase (exo-N4-amino)							46.0	47.0	47.0					10																	135203152		2203	4299	6502	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135203152G>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1293G>A	10.37:g.135203152G>A						PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	p.P431P	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	6	1376	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	569					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.1293G>A	CCDS7683.1																																																																																				0.682	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		27	19	0	0	0	1	0	27	19				
ANKS1B	56899	broad.mit.edu	37	12	99640250	99640250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr12:99640250C>T	ENST00000547776.2	-	13	2148	c.2149G>A	c.(2149-2151)Ggg>Agg	p.G717R	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G717R|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G297R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	717						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTTATTCTCCCCAGAGTACAG	0.463																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(2149-2151)Ggg>Agg		ankyrin repeat and sterile alpha motif domain containing 1B							137.0	129.0	132.0					12																	99640250		1903	4117	6020	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640250C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2149G>A	12.37:g.99640250C>T	ENSP00000449629:p.Gly717Arg					ANKS1B_ENST00000547010.1_Missense_Mutation_p.G297R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G717R|ANKS1B_ENST00000550833.1_5'UTR	p.G717R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2148	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	717					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2149G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570876	0.86542	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.69685	0.48;-0.42;0.48	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.981;0.999	T	0.72510	-0.4271	9	.	.	.	-6.936	17.5824	0.87972	0.0:1.0:0.0:0.0	.	297;717	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	R	717;297;717;296	ENSP00000449629:G717R;ENSP00000448512:G297R;ENSP00000331381:G717R	.	G	-	1	0	ANKS1B	98164381	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.815000	0.75242	2.655000	0.90218	0.561000	0.74099	GGG		0.463	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		25	33	0	0	0	1	0	25	33				
CIR1	9541	broad.mit.edu	37	2	175213374	175213374	+	Missense_Mutation	SNP	C	C	G	rs559500882		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr2:175213374C>G	ENST00000342016.3	-	10	1296	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	402	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TTCCTTGTCTCCCTTTGCTTG	0.517																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(1204-1206)Gag>Cag		corepressor interacting with RBPJ, 1							172.0	169.0	170.0					2																	175213374		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213374C>G	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1204G>C	2.37:g.175213374C>G	ENSP00000339723:p.Glu402Gln					CIR1_ENST00000362053.5_3'UTR	p.E402Q	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	1296	-			402			Arg/Ser-rich (RS domain).		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.1204G>C	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643491	0.14451	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.03	4.21	0.49690	.	0.719886	0.14096	N	0.341713	T	0.28101	0.0693	L	0.31065	0.9	0.09310	N	0.999997	B;B	0.14438	0.01;0.003	B;B	0.11329	0.006;0.002	T	0.15983	-1.0418	9	0.19147	T	0.46	.	7.6918	0.28571	0.0:0.6662:0.2414:0.0924	.	402;402	A0PJI7;Q86X95	.;CIR1_HUMAN	Q	402	.	ENSP00000339723:E402Q	E	-	1	0	CIR1	174921620	0.971000	0.33674	0.032000	0.17829	0.030000	0.12068	1.138000	0.31491	1.564000	0.49628	0.557000	0.71058	GAG		0.517	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		66	80	0	0	0	1	0	66	80				
ZNF143	7702	broad.mit.edu	37	11	9549107	9549107	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr11:9549107A>G	ENST00000396602.2	+	16	1983	c.1864A>G	c.(1864-1866)Atc>Gtc	p.I622V	ZNF143_ENST00000530463.1_Missense_Mutation_p.I621V|ZNF143_ENST00000396597.3_Missense_Mutation_p.I591V|ZNF143_ENST00000299606.2_Missense_Mutation_p.I594V|ZNF143_ENST00000396604.1_Missense_Mutation_p.I621V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	622					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GGAAGAAGCCATCAGAATAGC	0.423																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1864-1866)Atc>Gtc		zinc finger protein 143							115.0	109.0	111.0					11																	9549107		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9549107A>G	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1864A>G	11.37:g.9549107A>G	ENSP00000379847:p.Ile622Val					ZNF143_ENST00000396604.1_Missense_Mutation_p.I621V|ZNF143_ENST00000396597.3_Missense_Mutation_p.I591V|ZNF143_ENST00000299606.2_Missense_Mutation_p.I594V|ZNF143_ENST00000530463.1_Missense_Mutation_p.I621V	p.I622V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	16	1983	+			622					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.1864A>G	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921783	0.73213	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606	T;T;T;T;T	0.13901	2.59;2.55;2.59;2.68;2.66	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	T	0.28532	0.0706	L	0.46157	1.445	0.58432	D	0.999998	P;P;P	0.38863	0.65;0.518;0.518	P;P;P	0.54140	0.743;0.558;0.456	T	0.00865	-1.1535	10	0.66056	D	0.02	.	15.9746	0.80054	1.0:0.0:0.0:0.0	.	591;621;622	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	V	621;622;621;591;594	ENSP00000379849:I621V;ENSP00000379847:I622V;ENSP00000432154:I621V;ENSP00000379843:I591V;ENSP00000299606:I594V	ENSP00000299606:I594V	I	+	1	0	ZNF143	9505683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.242000	0.89818	2.177000	0.69029	0.533000	0.62120	ATC		0.423	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		53	76	0	0	0	1	0	53	76				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077597	32077597	+	RNA	SNP	C	C	G			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr16:32077597C>G	ENST00000354689.6	+	0	212				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		TTCACCATCTCCAGGGACAAC	0.512																																						ENST00000354689.6																			0																																																			28307							g.chr16:32077597C>G	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077597C>G						RP11-1166P10.6_ENST00000566806.1_RNA								0	212	+									RNA	SNP	ENST00000354689.6	37			.	.	.	.	.	.	.	.	.	.	C	1.957	-0.439902	0.04636	.	.	ENSG00000198229	ENST00000354689	.	.	.	.	.	.	.	.	.	.	.	T	0.46698	0.1406	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55742	-0.8093	3	0.87932	D	0	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	.	.	.	C	71	.	ENSP00000346720:S71C	S	+	2	0	AC142381.1	31985098	1.000000	0.71417	0.289000	0.24876	0.290000	0.27261	3.299000	0.51826	0.107000	0.17824	0.109000	0.15622	TCC		0.512	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			170	383	0	0	0	1	0	170	383				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			10	155	0	0	0	1	0	10	155				
RNF213	57674	broad.mit.edu	37	17	78355400	78355400	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr17:78355400G>C	ENST00000582970.1	+	57	13994	c.13851G>C	c.(13849-13851)caG>caC	p.Q4617H	CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Q4666H|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q2690H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4617					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q4666Q(1)|p.Q2690Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTTCTGCAGCAGCACATCC	0.572																																						ENST00000582970.1																			2	Substitution - coding silent(2)	p.Q4666Q(1)|p.Q2690Q(1)	lung(2)	NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13849-13851)caG>caC		ring finger protein 213							105.0	89.0	95.0					17																	78355400		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78355400G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13851G>C	17.37:g.78355400G>C	ENSP00000464087:p.Gln4617His					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q2690H|RNF213_ENST00000508628.2_Missense_Mutation_p.Q4666H|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	p.Q4617H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		57	13994	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13851G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	2.424	-0.332457	0.05314	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22945	1.93	5.2	0.466	0.16716	.	0.805385	0.11412	N	0.566649	T	0.20941	0.0504	L	0.55103	1.725	0.22156	N	0.999329	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.002	T	0.37454	-0.9705	10	0.12430	T	0.62	.	8.8413	0.35144	0.0826:0.4324:0.485:0.0	.	4666;2690	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4617;4666;2690	ENSP00000338218:Q2690H	ENSP00000338218:Q2690H	Q	+	3	2	RNF213	75969995	0.016000	0.18221	0.789000	0.31954	0.239000	0.25481	0.465000	0.22004	0.169000	0.19679	0.655000	0.94253	CAG		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		26	38	0	0	0	1	0	26	38				
YTHDC2	64848	broad.mit.edu	37	5	112884355	112884355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr5:112884355C>T	ENST00000161863.4	+	11	1826	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	YTHDC2_ENST00000515883.1_Missense_Mutation_p.S538L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	538					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTAAAGCATCAAATGGCTGG	0.353																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1612-1614)tCa>tTa		YTH domain containing 2							116.0	123.0	121.0					5																	112884355		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112884355C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1613C>T	5.37:g.112884355C>T	ENSP00000161863:p.Ser538Leu					YTHDC2_ENST00000515883.1_Missense_Mutation_p.S538L	p.S538L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	11	1826	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	538					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.1613C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872774	0.72180	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.64438	-0.1;-0.1	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.067635	0.64402	D	0.000008	T	0.55847	0.1946	L	0.43757	1.38	0.58432	D	0.999994	B	0.32573	0.376	B	0.33960	0.173	T	0.51741	-0.8667	10	0.11794	T	0.64	.	19.4401	0.94815	0.0:1.0:0.0:0.0	.	538	Q9H6S0	YTDC2_HUMAN	L	538;538;448	ENSP00000161863:S538L;ENSP00000423101:S538L	ENSP00000161863:S538L	S	+	2	0	YTHDC2	112912254	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.556000	0.82233	2.667000	0.90743	0.557000	0.71058	TCA		0.353	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		44	41	0	0	0	1	0	44	41				
PCLO	27445	broad.mit.edu	37	7	82474651	82474651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr7:82474651G>A	ENST00000333891.9	-	13	14319	c.13982C>T	c.(13981-13983)tCc>tTc	p.S4661F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.S4661F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGGGAACGGAACTGGATCC	0.517																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13981-13983)tCc>tTc		piccolo presynaptic cytomatrix protein							74.0	75.0	75.0					7																	82474651		2013	4180	6193	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474651G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13982C>T	7.37:g.82474651G>A	ENSP00000334319:p.Ser4661Phe					PCLO_ENST00000333891.8_Missense_Mutation_p.S4661F|PCLO_ENST00000426442.2_5'UTR	p.S4661F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14319	-			4549			C2 1.			Missense_Mutation	SNP	ENST00000333891.9	37	c.13982C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510678	0.44660	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.18016	2.24;2.25	5.53	5.53	0.82687	.	.	.	.	.	T	0.21062	0.0507	N	0.08118	0	0.80722	D	1	D;D;P;B	0.57571	0.98;0.958;0.755;0.412	P;P;B;B	0.56700	0.804;0.748;0.26;0.259	T	0.17992	-1.0351	9	0.87932	D	0	.	19.827	0.96621	0.0:0.0:1.0:0.0	.	4661;4661;91;158	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	F	4661;4661;157	ENSP00000334319:S4661F;ENSP00000388393:S4661F	ENSP00000334319:S4661F	S	-	2	0	PCLO	82312587	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	5.835000	0.69368	2.759000	0.94783	0.561000	0.74099	TCC		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	22	0	0	0	1	0	12	22				
GP5	2814	broad.mit.edu	37	3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:194118797C>T	ENST00000401815.1	-	1	286	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_ENST00000323007.3_Missense_Mutation_p.G72D			P40197	GPV_HUMAN	glycoprotein V (platelet)	72					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(214-216)gGc>gAc		glycoprotein V (platelet)							55.0	55.0	55.0					3																	194118797		2202	4300	6502	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118797C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.215G>A	3.37:g.194118797C>T	ENSP00000383931:p.Gly72Asp					GP5_ENST00000323007.3_Missense_Mutation_p.G72D	p.G72D			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	286	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	72					D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.215G>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277812	0.23307	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	D;D	0.91068	-2.78;-2.78	4.72	3.85	0.44370	.	0.378154	0.19435	N	0.114328	D	0.83949	0.5365	L	0.50333	1.59	0.32552	N	0.532272	B	0.29508	0.246	B	0.26094	0.066	T	0.79132	-0.1929	10	0.19147	T	0.46	.	5.2789	0.15665	0.0:0.5248:0.2315:0.2437	.	72	P40197	GPV_HUMAN	D	72	ENSP00000383931:G72D;ENSP00000319286:G72D	ENSP00000319286:G72D	G	-	2	0	GP5	195600086	0.013000	0.17824	0.935000	0.37517	0.340000	0.28889	0.811000	0.27198	1.292000	0.44672	0.561000	0.74099	GGC		0.632	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		5	264	0	0	0	1	0	5	264				
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	7						4	7	---	---	---	---
RGS17	26575	broad.mit.edu	37	6	153365075	153365077	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr6:153365075_153365077delTGT	ENST00000367225.2	-	1	101_103	c.77_79delACA	c.(76-81)aacacc>acc	p.N26del	RGS17_ENST00000206262.1_In_Frame_Del_p.N26del			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	26					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAGCAACAGGTGTTGTTGGGCCT	0.517																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2																			0				cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(76-81)acc>a		regulator of G-protein signaling 17																																				SO:0001651	inframe_deletion	26575				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153365075_153365077delTGT	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.77_79delACA	6.37:g.153365078_153365080delTGT	ENSP00000356194:p.Asn26del					RGS17_ENST00000206262.1_In_Frame_Del_p.NT26del	p.NT26del			Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	1	101_103	-		Ovarian(120;0.126)	26					Q5TF49|Q8TD61|Q9UJS8	In_Frame_Del	DEL	ENST00000367225.2	37	c.77_79delACA	CCDS5244.1																																																																																				0.517	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			37	119						37	119	---	---	---	---
CBX3P2	645158	broad.mit.edu	37	18	2652677	2652678	+	RNA	DEL	AC	AC	-			TCGA-CN-A6V7-01A-12D-A34J-08	TCGA-CN-A6V7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1df0565-4d89-40a5-9c53-a5d2f0d00e2d	e32d8d17-6722-473c-9e7d-6f0a292107b5	g.chr18:2652677_2652678delAC	ENST00000579647.1	-	0	919_920				RNU6-340P_ENST00000364005.1_RNA	NR_033754.2				chromobox homolog 3 pseudogene 2																		CCTAGGTTTTACACACACACAC	0.342																																						ENST00000579647.1																			0																																																			645158							g.chr18:2652677_2652678delAC			18p11.32	2011-09-05				ENSG00000266405			42874	pseudogene	pseudogene							Standard	NR_033754		Approved		uc021ugl.1				18.37:g.2652687_2652688delAC								NR_033754.2						0	919_920	-									RNA	DEL	ENST00000579647.1	37																																																																																						0.342	CBX3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441602.1			2	4						2	4	---	---	---	---
