#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
CPSF3L	54973	broad.mit.edu	37	1	1256376	1256376	+	Splice_Site	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:1256376G>A	ENST00000435064.1	-	2	208	c.126C>T	c.(124-126)gaC>gaT	p.D42D	CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000450926.2_Splice_Site_p.D42D|CPSF3L_ENST00000419704.1_Splice_Site_p.D42D|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Splice_Site_p.D48D|CPSF3L_ENST00000545578.1_Splice_Site_p.D13D	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	42					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.D42E(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGACTCACGTCGTCATTGA	0.647																																						uc001aef.1																			1	Substitution - Missense(1)	p.D42E(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.e4+1		Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.							103.0	88.0	93.0					1																	1256376		2201	4300	6501	SO:0001630	splice_region_variant	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256376G>A	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.126+1C>T	1.37:g.1256376G>A						CPSF3L_uc001aee.1_Splice_Site_p.D42_splice|CPSF3L_uc009vjz.1_Splice_Site_p.D42_splice|CPSF3L_uc010nyj.1_Splice_Site_p.D13_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Splice_Site_p.D42_splice|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_Silent_p.D42D	p.D48_splice			Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	4	657	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	42					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Silent	SNP	ENST00000435064.1	37	c.144_splice	CCDS21.1																																																																																				0.647	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871	Silent
NPHP4	261734	broad.mit.edu	37	1	5937354	5937354	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:5937354T>C	ENST00000378156.4	-	20	2881	c.2616A>G	c.(2614-2616)aaA>aaG	p.K872K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	872					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCACGTGTTTTCCTGCGA	0.632																																						uc001alq.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2614-2616)aaA>aaG		Homo sapiens nephronophthisis 4 (NPHP4), mRNA.							24.0	24.0	24.0					1																	5937354		2159	4246	6405	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5937354T>C	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2616A>G	1.37:g.5937354T>C						NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	p.K872K	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	19	2884	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	872					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.2616A>G	CCDS44052.1																																																																																				0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T	rs573837366		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:39833905C>T	ENST00000372915.3	+	49	12959	c.12872C>T	c.(12871-12873)gCg>gTg	p.A4291V	MACF1_ENST00000564288.1_Missense_Mutation_p.A4286V|MACF1_ENST00000567887.1_Missense_Mutation_p.A4323V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.A2224V|MACF1_ENST00000289893.4_Missense_Mutation_p.A2726V|MACF1_ENST00000545844.1_Missense_Mutation_p.A2224V|MACF1_ENST00000317713.7_Missense_Mutation_p.A2224V|MACF1_ENST00000361689.2_Missense_Mutation_p.A2224V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4291					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		16572	0.001		0.0	False		,,,				2504	0.0					uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8176-8178)gCg>gTg		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							119.0	113.0	115.0					1																	39833905		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833905C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12872C>T	1.37:g.39833905C>T	ENSP00000362006:p.Ala4291Val					MACF1_uc021ols.1_Missense_Mutation_p.A2224V|MACF1_uc001cdc.2_Missense_Mutation_p.A2224V|MACF1_uc021olt.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	p.A2726V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	8177	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4291					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8177C>T		.	.	.	.	.	.	.	.	.	.	C	14.65	2.598307	0.46318	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.61392	0.14;0.19;0.14;0.11;0.33;1.25	5.85	5.85	0.93711	.	0.485335	0.18855	N	0.129285	T	0.39682	0.1087	N	0.16478	0.41	0.80722	D	1	P;B;B;B	0.47191	0.891;0.09;0.009;0.005	B;B;B;B	0.37508	0.252;0.036;0.004;0.008	T	0.26643	-1.0097	10	0.22109	T	0.4	.	15.3264	0.74168	0.0:0.9314:0.0:0.0686	.	4291;2224;2224;2189	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	V	2224;4291;2224;2224;2224;2726	ENSP00000439537:A2224V;ENSP00000362006:A4291V;ENSP00000354573:A2224V;ENSP00000313438:A2224V;ENSP00000444364:A2224V;ENSP00000289893:A2726V	ENSP00000289893:A2726V	A	+	2	0	MACF1	39606492	0.361000	0.24972	0.946000	0.38457	0.799000	0.45148	0.880000	0.28159	2.775000	0.95449	0.467000	0.42956	GCG		0.453	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
CLCA2	9635	broad.mit.edu	37	1	86916416	86916416	+	Splice_Site	SNP	G	G	A	rs369722339		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:86916416G>A	ENST00000370565.4	+	12	2317	c.2155G>A	c.(2155-2157)Ggt>Agt	p.G719S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	719					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACAGCAAACGGTAAGAACCA	0.453																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42						c.e12+1		Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.							134.0	120.0	125.0					1																	86916416		2203	4300	6503	SO:0001630	splice_region_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86916416G>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2155+1G>A	1.37:g.86916416G>A							p.G719_splice	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	12	2317	+		Lung NSC(277;0.238)	719					A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2155_splice	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934674	0.92458	.	.	ENSG00000137975	ENST00000370565	T	0.03272	3.99	5.35	5.35	0.76521	.	0.128210	0.51477	N	0.000087	T	0.06508	0.0167	M	0.76838	2.35	0.51767	D	0.999932	D	0.65815	0.995	P	0.48189	0.57	T	0.31641	-0.9936	10	0.38643	T	0.18	-10.1054	18.6568	0.91456	0.0:0.0:1.0:0.0	.	719	Q9UQC9	CLCA2_HUMAN	S	719	ENSP00000359596:G719S	ENSP00000359596:G719S	G	+	1	0	CLCA2	86689004	1.000000	0.71417	0.947000	0.38551	0.904000	0.53231	6.097000	0.71452	2.518000	0.84900	0.637000	0.83480	GGT		0.453	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	Missense_Mutation
EPHX4	253152	broad.mit.edu	37	1	92528664	92528664	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:92528664G>A	ENST00000370383.4	+	7	1008	c.910G>A	c.(910-912)Gga>Aga	p.G304R		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	304						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACTACTGTGGGGAGAGAATGA	0.398																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(910-912)Gga>Aga		Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.							131.0	134.0	133.0					1																	92528664		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92528664G>A	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.910G>A	1.37:g.92528664G>A	ENSP00000359410:p.Gly304Arg						p.G304R	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			6	1014	+			304					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.910G>A	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947571	0.92593	.	.	ENSG00000172031	ENST00000370383	T	0.11712	2.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66184	-0.5987	10	0.87932	D	0	.	19.904	0.97001	0.0:0.0:1.0:0.0	.	304	Q8IUS5	EPHX4_HUMAN	R	304	ENSP00000359410:G304R	ENSP00000359410:G304R	G	+	1	0	EPHX4	92301252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.366000	0.97143	2.698000	0.92095	0.650000	0.86243	GGA		0.398	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
DPYD	1806	broad.mit.edu	37	1	98293688	98293688	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:98293688G>C	ENST00000370192.3	-	3	315	c.215C>G	c.(214-216)gCt>gGt	p.A72G	DPYD_ENST00000423006.2_Missense_Mutation_p.A35G|DPYD_ENST00000306031.5_Missense_Mutation_p.A72G	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	72	4Fe-4S ferredoxin-type 1. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCTCGGAGAGCTCCTCGCTC	0.393																																						uc001drv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(214-216)gCt>gGt		Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	Capecitabine(DB01101)|Enfuvirtide(DB00109)						106.0	94.0	98.0					1																	98293688		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98293688G>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.215C>G	1.37:g.98293688G>C	ENSP00000359211:p.Ala72Gly					DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.A72G	p.A72G	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	2	352	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	72			4Fe-4S ferredoxin-type 1.		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.215C>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740687	0.69304	.	.	ENSG00000188641	ENST00000370192;ENST00000423006;ENST00000306031	D;D;D	0.85171	-1.95;-1.95;-1.95	5.68	5.68	0.88126	Fumarate reductase, C-terminal (1);Alpha-helical ferredoxin (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.116916	0.56097	D	0.000029	D	0.94155	0.8125	M	0.92268	3.29	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.993;0.999	D	0.94699	0.7881	10	0.72032	D	0.01	-18.2445	19.7936	0.96469	0.0:0.0:1.0:0.0	.	72;72	E9PFN1;Q12882	.;DPYD_HUMAN	G	72;35;72	ENSP00000359211:A72G;ENSP00000398884:A35G;ENSP00000307107:A72G	ENSP00000307107:A72G	A	-	2	0	DPYD	98066276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.501000	0.90501	2.677000	0.91161	0.563000	0.77884	GCT		0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
FLG	2312	broad.mit.edu	37	1	152280977	152280977	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152280977A>G	ENST00000368799.1	-	3	6420	c.6385T>C	c.(6385-6387)Tca>Cca	p.S2129P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2129	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATGCTGAGTGCCTGGAG	0.572									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6385-6387)Tca>Cca		Homo sapiens filaggrin (FLG), mRNA.							395.0	303.0	334.0					1																	152280977		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280977A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6385T>C	1.37:g.152280977A>G	ENSP00000357789:p.Ser2129Pro						p.S2129P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6421	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2129			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6385T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	6.100	0.386633	0.11524	.	.	ENSG00000143631	ENST00000368799	T	0.04049	3.72	3.32	-6.64	0.01801	.	.	.	.	.	T	0.01454	0.0047	M	0.80616	2.505	0.09310	N	1	P	0.41041	0.736	B	0.33196	0.159	T	0.02232	-1.1191	9	0.34782	T	0.22	.	3.9548	0.09385	0.1944:0.5302:0.1444:0.131	.	2129	P20930	FILA_HUMAN	P	2129	ENSP00000357789:S2129P	ENSP00000357789:S2129P	S	-	1	0	FLG	150547601	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-2.206000	0.00741	-0.527000	0.04329	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152282616	152282616	+	Silent	SNP	C	C	T	rs201688513		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152282616C>T	ENST00000368799.1	-	3	4781	c.4746G>A	c.(4744-4746)gcG>gcA	p.A1582A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGACCCCGCTGATTCTC	0.602									Ichthyosis				C|||	1	0.000199681	0.0008	0.0	5008	,	,		18864	0.0		0.0	False		,,,				2504	0.0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4744-4746)gcG>gcA		Homo sapiens filaggrin (FLG), mRNA.							157.0	169.0	165.0					1																	152282616		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282616C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4746G>A	1.37:g.152282616C>T							p.A1582A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4782	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1582			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4746G>A	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PKP1	5317	broad.mit.edu	37	1	201289494	201289494	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:201289494C>T	ENST00000352845.3	+	8	1395	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	PKP1_ENST00000263946.3_Silent_p.S465S|PKP1_ENST00000367324.3_Silent_p.S444S			Q13835	PKP1_HUMAN	plakophilin 1	465					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TAGCGGCCAGCCGCTGTGACG	0.612																																						uc001gwd.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1393-1395)agC>agT		Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.							57.0	49.0	51.0					1																	201289494		2203	4300	6503	SO:0001819	synonymous_variant	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201289494C>T	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1395C>T	1.37:g.201289494C>T						PKP1_uc001gwe.3_Silent_p.S444S|PKP1_uc009wzm.3_Silent_p.S52S	p.S465S	NM_000299	NP_000290	Q13835	PKP1_HUMAN			7	1646	+			465					O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	c.1395C>T	CCDS30966.1																																																																																				0.612	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299	
USH2A	7399	broad.mit.edu	37	1	216061963	216061963	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:216061963C>T	ENST00000307340.3	-	41	8414	c.8028G>A	c.(8026-8028)ccG>ccA	p.P2676P	USH2A_ENST00000366943.2_Silent_p.P2676P|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2676	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGACTCCTCGGGAGAGTCA	0.468										HNSCC(13;0.011)																												uc001hku.1																			0		p.L2675V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8026-8028)ccG>ccA		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							86.0	90.0	88.0					1																	216061963		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216061963C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8028G>A	1.37:g.216061963C>T		HNSCC(13;0.011)					p.P2676P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	40	8415	-			2676			Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8028G>A	CCDS31025.1																																																																																				0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
MAP3K11	4296	broad.mit.edu	37	11	65367001	65367001	+	Silent	SNP	C	C	A	rs138509783		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr11:65367001C>A	ENST00000530153.1	-	9	1820	c.1299G>T	c.(1297-1299)ccG>ccT	p.P433P	MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000309100.3_Silent_p.P690P|MAP3K11_ENST00000532507.1_Silent_p.P106P					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGAAGGGGGCGGCTCGGTCG	0.736																																						uc001oew.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(2068-2070)ccG>ccT		Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.							18.0	24.0	22.0					11																	65367001		2158	4254	6412	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65367001C>A		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.1299G>T	11.37:g.65367001C>A						MAP3K11_uc001oev.3_Silent_p.P106P|MAP3K11_uc010rol.2_Silent_p.P433P|MAP3K11_uc001oex.1_Silent_p.P197P	p.P690P	NM_002419	NP_002410	Q16584	M3K11_HUMAN			8	2563	-			690			Pro-rich.			Silent	SNP	ENST00000530153.1	37	c.2070G>T																																																																																					0.736	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2		
ANKRD33	341405	broad.mit.edu	37	12	52284680	52284680	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:52284680G>C	ENST00000340970.4	+	5	946	c.575G>C	c.(574-576)aGt>aCt	p.S192T	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.S123T|ANKRD33_ENST00000301190.6_Missense_Mutation_p.S317T			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCTGGCCAGTCCCTTCGTC	0.632																																						uc001rzd.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(949-951)aGt>aCt		Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.							58.0	37.0	44.0					12																	52284680		2203	4297	6500	SO:0001583	missense	341405							g.chr12:52284680G>C		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.575G>C	12.37:g.52284680G>C	ENSP00000344690:p.Ser192Thr					ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S192T|ANKRD33_uc001rze.3_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.4_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.4_Missense_Mutation_p.S192T	p.S317T	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	4	1128	+			192					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.950G>C	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435462	0.83885	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.42513	0.97;1.14;2.11	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	M	0.76170	2.325	0.45172	D	0.998186	D;D;D	0.76494	0.982;0.998;0.999	D;D;D	0.78314	0.952;0.991;0.982	T	0.66131	-0.6000	10	0.54805	T	0.06	-18.723	14.6392	0.68711	0.0:0.0:1.0:0.0	.	192;123;317	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	T	317;123;192	ENSP00000301190:S317T;ENSP00000443722:S123T;ENSP00000344690:S192T	ENSP00000301190:S317T	S	+	2	0	ANKRD33	50570947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.658000	0.74407	2.493000	0.84123	0.561000	0.74099	AGT		0.632	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608	
PAN2	9924	broad.mit.edu	37	12	56717611	56717611	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:56717611A>T	ENST00000425394.2	-	14	2540	c.2164T>A	c.(2164-2166)Tgt>Agt	p.C722S	PAN2_ENST00000440411.3_Missense_Mutation_p.C718S|PAN2_ENST00000548043.1_Missense_Mutation_p.C722S|PAN2_ENST00000257931.5_Missense_Mutation_p.C721S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TACTTTTCACAGGTGTCACAC	0.522																																						uc001skx.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2164-2166)Tgt>Agt		Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.							87.0	78.0	81.0					12																	56717611		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56717611A>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2164T>A	12.37:g.56717611A>T	ENSP00000401721:p.Cys722Ser					PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.C718S|PAN2_uc001skz.3_Missense_Mutation_p.C721S	p.C722S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			13	2541	-			722						Missense_Mutation	SNP	ENST00000425394.2	37	c.2164T>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084691	0.76642	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.18	5.18	0.71444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.65573	0.833;0.929;0.936	T	0.25916	-1.0118	10	0.62326	D	0.03	-10.9643	14.3243	0.66509	1.0:0.0:0.0:0.0	.	721;718;722	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	S	722;718;721;722	ENSP00000401721:C722S;ENSP00000388231:C718S;ENSP00000257931:C721S;ENSP00000449861:C722S	ENSP00000257931:C721S	C	-	1	0	PAN2	55003878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.216000	0.95154	2.108000	0.64289	0.523000	0.50628	TGT		0.522	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871	
FGD6	55785	broad.mit.edu	37	12	95603097	95603097	+	Missense_Mutation	SNP	C	C	T	rs199618758		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:95603097C>T	ENST00000343958.4	-	2	2186	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	FGD6_ENST00000549499.1_Missense_Mutation_p.G655R|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.G655R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	655					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGGTGTCTCCGAGTTGGCTA	0.443																																						uc001tdp.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1963-1965)Gga>Aga		Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.							89.0	92.0	91.0					12																	95603097		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603097C>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1963G>A	12.37:g.95603097C>T	ENSP00000344446:p.Gly655Arg					FGD6_uc009zsx.3_Intron	p.G655R	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			1	2187	-			655					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1963G>A	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872206	0.17322	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.67698	-0.17;-0.28;-0.2	6.04	5.15	0.70609	.	0.286509	0.25247	N	0.032041	T	0.53367	0.1792	L	0.60455	1.87	0.20403	N	0.9999	P	0.52316	0.952	B	0.31547	0.132	T	0.58047	-0.7705	10	0.49607	T	0.09	-8.0152	8.6365	0.33950	0.0:0.7394:0.1256:0.135	.	655	Q6ZV73	FGD6_HUMAN	R	655	ENSP00000344446:G655R;ENSP00000450342:G655R;ENSP00000449005:G655R	ENSP00000344446:G655R	G	-	1	0	FGD6	94127228	0.001000	0.12720	0.221000	0.23827	0.382000	0.30200	0.593000	0.23999	1.568000	0.49683	0.561000	0.74099	GGA		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
MIPEP	4285	broad.mit.edu	37	13	24330744	24330744	+	Missense_Mutation	SNP	G	G	A	rs148780512	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr13:24330744G>A	ENST00000382172.3	-	18	2082	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	662					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGCGATAGCGCTCCCCGGCA	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		15957	0.003		0.0	False		,,,				2504	0.0					uc001uox.4																			0		p.R662H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(1984-1986)Cgc>Tgc		Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		1984	5.5	1.0	13	dbSNP_134	77	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MIPEP	NM_005932.3	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	662/714	24330744	5,13001	2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24330744G>A		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1984C>T	13.37:g.24330744G>A	ENSP00000371607:p.Arg662Cys						p.R662C	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	17	2112	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	662					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.1984C>T	CCDS9303.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	18.18	3.565872	0.65651	2.27E-4	4.65E-4	ENSG00000027001	ENST00000382172	T	0.13778	2.56	5.49	5.49	0.81192	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.74647	2.275	0.80722	D	1	B	0.25312	0.123	B	0.26969	0.075	T	0.01169	-1.1430	10	0.49607	T	0.09	.	13.7483	0.62890	0.0:0.0:0.8455:0.1544	.	662	Q99797	MIPEP_HUMAN	C	662	ENSP00000371607:R662C	ENSP00000371607:R662C	R	-	1	0	MIPEP	23228744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.392000	0.79840	2.574000	0.86865	0.585000	0.79938	CGC		0.517	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		
RPS8P10	388076	broad.mit.edu	37	15	22440385	22440385	+	IGR	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:22440385C>A								RP11-2F9.4 (4208 upstream) : IGHV1OR15-1 (7996 downstream)																							TTTTGGCATTCTTTTTCCTTT	0.468																																						uc001yuj.2																			0													Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	0							g.chr15:22440385C>A																													15.37:g.22440385C>A																-									Missense_Mutation	SNP		37																																																																																					0	0.468								
FMN1	342184	broad.mit.edu	37	15	33359642	33359642	+	Intron	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:33359642A>G	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Silent_p.S148S|FMN1_ENST00000334528.9_Silent_p.S148S|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATCAGAGTCAGAATCACTGG	0.522																																						uc001zhf.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(442-444)tcT>tcC		Homo sapiens formin 1 (FMN1), mRNA.							75.0	76.0	75.0					15																	33359642		2019	4180	6199	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359642A>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2367T>C	15.37:g.33359642A>G						FMN1_uc001zhg.2_Silent_p.S148S	p.S148S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	0	444	-		all_lung(180;1.14e-07)	0			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.444T>C																																																																																					0.522	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
SPATA5L1	79029	broad.mit.edu	37	15	45709546	45709546	+	Silent	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:45709546A>G	ENST00000305560.6	+	6	2016	c.1917A>G	c.(1915-1917)ttA>ttG	p.L639L		NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	639						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGTTACGACCTGGAA	0.393																																						uc001zve.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1915-1917)ttA>ttG		Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.							171.0	150.0	157.0					15																	45709546		2198	4298	6496	SO:0001819	synonymous_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45709546A>G	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1917A>G	15.37:g.45709546A>G						SPATA5L1_uc001zvf.3_Non-coding_Transcript	p.L639L	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	5	2026	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	639					C9JHR5|Q9H8W7|Q9HA41	Silent	SNP	ENST00000305560.6	37	c.1917A>G	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290979	0.23564	.	.	ENSG00000171763	ENST00000531624	.	.	.	5.89	-0.488	0.12056	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39057	-0.9632	4	.	.	.	-22.4054	5.9214	0.19084	0.3654:0.2714:0.3632:0.0	.	.	.	.	C	144	.	.	Y	+	2	0	SPATA5L1	43496838	1.000000	0.71417	0.796000	0.32109	0.996000	0.88848	1.070000	0.30653	-0.100000	0.12241	0.533000	0.62120	TAC		0.393	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063	
VPS13C	54832	broad.mit.edu	37	15	62182532	62182532	+	Missense_Mutation	SNP	C	C	T	rs150364963		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:62182532C>T	ENST00000261517.5	-	67	9246	c.9173G>A	c.(9172-9174)cGc>cAc	p.R3058H	VPS13C_ENST00000395896.4_Missense_Mutation_p.R3058H|VPS13C_ENST00000249837.3_Missense_Mutation_p.R3015H|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3015H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTCTCTGGCGCCCATCCAG	0.443																																						uc002agz.3																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9172-9174)cGc>cAc		Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	66.0	69.0		9173,9044,9044,9173	4.6	1.0	15	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense,missense,missense	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	3058/3629,3015/3711,3015/3586,3058/3754	62182532	1,13005	2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62182532C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9173G>A	15.37:g.62182532C>T	ENSP00000261517:p.Arg3058His					VPS13C_uc002aha.3_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.2_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.2_Missense_Mutation_p.R3015H	p.R3058H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			66	9264	-			3058						Missense_Mutation	SNP	ENST00000261517.5	37	c.9173G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786755	0.90367	2.27E-4	0.0	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.41400	1.0;1.0;1.0	5.5	4.56	0.56223	.	0.111756	0.64402	D	0.000007	T	0.63343	0.2503	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.968;1.0;1.0;0.988	P;D;D;P	0.83275	0.784;0.996;0.992;0.702	T	0.64888	-0.6301	10	0.44086	T	0.13	.	15.4381	0.75162	0.1401:0.8599:0.0:0.0	.	3015;3058;3015;3058	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	H	3015;3058;3058;3058	ENSP00000249837:R3015H;ENSP00000261517:R3058H;ENSP00000379233:R3058H	ENSP00000249837:R3015H	R	-	2	0	VPS13C	59969824	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.291000	0.78721	1.267000	0.44247	0.655000	0.94253	CGC		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
NR2F2	7026	broad.mit.edu	37	15	96877739	96877739	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:96877739C>T	ENST00000394166.3	+	2	2266	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000394171.2_Missense_Mutation_p.R140W|NR2F2_ENST00000453270.2_Missense_Mutation_p.R140W|NR2F2_ENST00000421109.2_Missense_Mutation_p.R160W	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	293	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGACCACATACGGATCTTCCA	0.627																																						uc010uri.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(877-879)Cgg>Tgg		Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.							32.0	31.0	32.0					15																	96877739		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877739C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.877C>T	15.37:g.96877739C>T	ENSP00000377721:p.Arg293Trp					NR2F2_uc002btp.3_Missense_Mutation_p.R160W|NR2F2_uc010urj.2_Missense_Mutation_p.R140W|NR2F2_uc010urk.2_Missense_Mutation_p.R140W	p.R293W	NM_021005	NP_001138629	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	2101	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		293			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.877C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818676	0.90790	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.128962	0.51477	D	0.000086	D	0.98504	0.9501	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	D	0.99780	1.1027	10	0.87932	D	0	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	293;160	P24468;Q3KQR7	COT2_HUMAN;.	W	160;293;140;140	ENSP00000401674:R160W;ENSP00000377721:R293W;ENSP00000377726:R140W;ENSP00000389853:R140W	ENSP00000377721:R293W	R	+	1	2	NR2F2	94678743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.313000	0.51935	2.376000	0.81061	0.655000	0.94253	CGG		0.627	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1		
FOXN1	8456	broad.mit.edu	37	17	26864328	26864328	+	Silent	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:26864328A>C	ENST00000226247.2	+	8	1850	c.1821A>C	c.(1819-1821)gcA>gcC	p.A607A	FOXN1_ENST00000579795.1_Silent_p.A607A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	607					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCTCCGGGGCACTGGGTGACC	0.687																																						uc010crm.3																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1819-1821)gcA>gcC		Homo sapiens forkhead box N1 (FOXN1), mRNA.							34.0	37.0	36.0					17																	26864328		2203	4299	6502	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26864328A>C	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1821A>C	17.37:g.26864328A>C						FOXN1_uc002hbj.3_Silent_p.A607A	p.A607A	NM_003593	NP_003584	O15353	FOXN1_HUMAN			8	2019	+	Lung NSC(42;0.00431)		607					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.1821A>C	CCDS11232.1																																																																																				0.687	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		
GJC1	10052	broad.mit.edu	37	17	42882434	42882434	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:42882434A>G	ENST00000426548.1	-	3	1021	c.752T>C	c.(751-753)cTt>cCt	p.L251P	GJC1_ENST00000330514.4_Missense_Mutation_p.L251P|GJC1_ENST00000590758.1_Missense_Mutation_p.L251P|GJC1_ENST00000592524.1_Missense_Mutation_p.L251P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	251					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCCTAAATGAAGCATCTCCCA	0.413																																						uc002ihj.3																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(751-753)cTt>cCt		Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.							120.0	119.0	119.0					17																	42882434		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882434A>G	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.752T>C	17.37:g.42882434A>G	ENSP00000411528:p.Leu251Pro					GJC1_uc002ihk.3_Missense_Mutation_p.L251P|GJC1_uc002ihl.3_Missense_Mutation_p.L251P|GJC1_uc021tyf.1_Missense_Mutation_p.L251P	p.L251P	NM_005497	NP_005488	P36383	CXG1_HUMAN			1	1263	-		Prostate(33;0.0959)	251					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.752T>C	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665569	0.47677	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.95949	-3.86;-3.86	5.28	5.28	0.74379	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97889	1.0296	10	0.52906	T	0.07	.	14.3844	0.66934	1.0:0.0:0.0:0.0	.	251	P36383	CXG1_HUMAN	P	251	ENSP00000411528:L251P;ENSP00000333193:L251P	ENSP00000333193:L251P	L	-	2	0	GJC1	40237960	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.291000	0.78721	1.995000	0.58328	0.421000	0.28195	CTT		0.413	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
MC4R	4160	broad.mit.edu	37	18	58039563	58039563	+	Missense_Mutation	SNP	C	C	T	rs142837166		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr18:58039563C>T	ENST00000299766.3	-	1	438	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	7					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTGCATCCCACGGTGGGTGGA	0.537																																						uc002lie.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17	GRCh37	CM035774	MC4R	M	rs142837166	c.(19-21)cGt>cAt		Homo sapiens melanocortin 4 receptor (MC4R), mRNA.		C	HIS/ARG	2,4398		0,2,2198	41.0	41.0	41.0		20	-8.6	0.0	18	dbSNP_134	41	0,8588		0,0,4294	no	missense	MC4R	NM_005912.2	29	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign	7/333	58039563	2,12986	2200	4294	6494	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039563C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.20G>A	18.37:g.58039563C>T	ENSP00000299766:p.Arg7His						p.R7H	NM_005912	NP_005903	P32245	MC4R_HUMAN			0	439	-		Colorectal(73;0.0946)	7					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.20G>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	1.339	-0.594694	0.03771	4.55E-4	0.0	ENSG00000166603	ENST00000299766	T	0.58652	0.32	5.56	-8.62	0.00881	.	1.160630	0.06332	N	0.706420	T	0.34803	0.0910	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.20046	T	0.44	.	9.0616	0.36438	0.0:0.2024:0.5238:0.2738	.	7	P32245	MC4R_HUMAN	H	7	ENSP00000299766:R7H	ENSP00000299766:R7H	R	-	2	0	MC4R	56190543	0.397000	0.25270	0.000000	0.03702	0.694000	0.40290	0.698000	0.25571	-1.204000	0.02648	-0.302000	0.09304	CGT		0.537	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912	
HDGFRP2	84717	broad.mit.edu	37	19	4475292	4475292	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:4475292C>T	ENST00000301284.4	+	2	157	c.93C>T	c.(91-93)ggC>ggT	p.G31G	HDGFRP2_ENST00000586684.1_Silent_p.G31G	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		31	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TCGCGGATGGCGCCGTGAAGC	0.562																																						uc002mao.3																			0											c.(91-93)ggC>ggT		Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.							77.0	87.0	83.0					19																	4475292		1956	4133	6089	SO:0001819	synonymous_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4475292C>T																												ENST00000301284.4:c.93C>T	19.37:g.4475292C>T						HDGFRP2_uc002map.3_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	p.G31G	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			1	186	+			31			PWWP.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Silent	SNP	ENST00000301284.4	37	c.93C>T	CCDS42472.1																																																																																				0.562	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1		
ZNF564	163050	broad.mit.edu	37	19	12638084	12638084	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:12638084G>A	ENST00000339282.7	-	4	1034	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CATTCATGGGGTTTCTCTCCA	0.403																																						uc002mty.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(838-840)Ccc>Tcc		Homo sapiens zinc finger protein 564 (ZNF564), mRNA.							55.0	60.0	58.0					19																	12638084		2152	4274	6426	SO:0001583	missense	163050				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12638084G>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.838C>T	19.37:g.12638084G>A	ENSP00000340004:p.Pro280Ser					ZNF709_uc002mtx.4_Intron	p.P280S	NM_144976	NP_659413	Q8N972	ZN709_HUMAN			3	1048	-			335					B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.838C>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773197	0.90108	.	.	ENSG00000249709	ENST00000339282	T	0.23950	1.88	1.96	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42698	0.1214	L	0.59912	1.85	0.80722	D	1	D	0.71674	0.998	D	0.68192	0.956	T	0.44081	-0.9351	9	0.66056	D	0.02	.	11.637	0.51209	0.0:0.0:1.0:0.0	.	280	Q8TBZ8	ZN564_HUMAN	S	280	ENSP00000340004:P280S	ENSP00000340004:P280S	P	-	1	0	ZNF564	12499084	1.000000	0.71417	0.184000	0.23157	0.985000	0.73830	4.954000	0.63631	1.420000	0.47138	0.643000	0.83706	CCC		0.403	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
CEP89	84902	broad.mit.edu	37	19	33406291	33406291	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:33406291C>T	ENST00000305768.5	-	14	1605	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	506					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGCGATTTTGCCATCCGAGTG	0.393																																						uc002nty.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1516-1518)gGc>gAc		Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.							117.0	106.0	110.0					19																	33406291		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33406291C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1517G>A	19.37:g.33406291C>T	ENSP00000306105:p.Gly506Asp					CEP89_uc002ntx.3_Missense_Mutation_p.G259D|CEP89_uc010edg.3_Non-coding_Transcript	p.G506D	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			13	1606	-			506					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1517G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164518	0.01673	.	.	ENSG00000121289	ENST00000305768	D	0.87256	-2.23	5.6	1.05	0.20165	.	0.583645	0.21341	N	0.076122	T	0.80773	0.4687	L	0.53249	1.67	0.09310	N	0.999997	B;B	0.14805	0.003;0.011	B;B	0.15052	0.012;0.011	T	0.62854	-0.6766	10	0.16420	T	0.52	-0.1895	9.9282	0.41505	0.0:0.6532:0.0:0.3467	.	259;506	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	D	506	ENSP00000306105:G506D	ENSP00000306105:G506D	G	-	2	0	CEP89	38098131	0.045000	0.20229	0.165000	0.22776	0.011000	0.07611	0.235000	0.17948	0.321000	0.23259	0.591000	0.81541	GGC		0.393	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	
PSG9	5678	broad.mit.edu	37	19	43762524	43762524	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:43762524G>C	ENST00000270077.3	-	5	1169	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	PSG9_ENST00000291752.5_Missense_Mutation_p.S172C|PSG9_ENST00000593948.1_Missense_Mutation_p.S265C|PSG9_ENST00000596730.1_Missense_Mutation_p.S172C|PSG9_ENST00000418820.2_Missense_Mutation_p.S265C|PSG9_ENST00000244293.7_Missense_Mutation_p.S265C|PSG9_ENST00000443718.3_Missense_Mutation_p.S265C	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	358	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGGTGGGTTAGATTCCGTGAA	0.448																																						uc002owd.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1072-1074)tCt>tGt		Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.							143.0	172.0	163.0					19																	43762524		2142	4280	6422	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43762524G>C	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1073C>G	19.37:g.43762524G>C	ENSP00000270077:p.Ser358Cys					PSG9_uc002owe.4_Missense_Mutation_p.S265C|PSG9_uc010xwm.2_Missense_Mutation_p.S265C|PSG9_uc002owf.4_Missense_Mutation_p.S172C|PSG9_uc002owg.2_Missense_Mutation_p.S265C	p.S358C	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	1172	-		Prostate(69;0.00682)	358			Ig-like C2-type 3.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.1073C>G	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	10.64	1.407258	0.25378	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	1.58	1.58	0.23477	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41442	0.1159	M	0.92317	3.295	0.19945	N	0.999943	B;D;D;D;D;D	0.89917	0.003;0.999;0.999;0.98;1.0;1.0	B;D;D;P;D;D	0.97110	0.038;0.989;0.99;0.77;1.0;1.0	T	0.11060	-1.0603	9	0.87932	D	0	.	6.5369	0.22359	0.0:0.0:1.0:0.0	.	265;214;265;172;358;358	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	C	358;172;265;319;265	ENSP00000270077:S358C;ENSP00000291752:S172C;ENSP00000396753:S265C;ENSP00000244293:S265C	ENSP00000244293:S265C	S	-	2	0	PSG9	48454364	0.536000	0.26378	0.438000	0.26821	0.012000	0.07955	2.047000	0.41269	0.856000	0.35383	0.194000	0.17425	TCT		0.448	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
SYNGR4	23546	broad.mit.edu	37	19	48878966	48878966	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:48878966C>T	ENST00000344846.2	+	4	678	c.428C>T	c.(427-429)gCc>gTc	p.A143V	SYNGR4_ENST00000601610.1_Missense_Mutation_p.A94V|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	143	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCAGCAGTGCCCAGGCAGCC	0.612																																						uc002piz.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(427-429)gCc>gTc		Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.							97.0	88.0	91.0					19																	48878966		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48878966C>T	AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.428C>T	19.37:g.48878966C>T	ENSP00000344041:p.Ala143Val						p.A143V	NM_012451	NP_036583	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	3	679	+		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	143			MARVEL.		Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.428C>T	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792415	0.70452	.	.	ENSG00000105467	ENST00000344846	T	0.29142	1.58	4.53	3.49	0.39957	Marvel (1);MARVEL-like domain (1);	0.050308	0.85682	D	0.000000	T	0.36220	0.0959	M	0.62088	1.915	0.49483	D	0.999796	P	0.50617	0.937	P	0.46940	0.532	T	0.24261	-1.0165	10	0.48119	T	0.1	-10.7402	12.1379	0.53982	0.0:0.9134:0.0:0.0866	.	143	O95473	SNG4_HUMAN	V	143	ENSP00000344041:A143V	ENSP00000344041:A143V	A	+	2	0	SYNGR4	53570778	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	5.479000	0.66813	1.261000	0.44149	0.555000	0.69702	GCC		0.612	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1		
LILRA1	11024	broad.mit.edu	37	19	55106242	55106242	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:55106242T>C	ENST00000251372.3	+	4	365	c.183T>C	c.(181-183)taT>taC	p.Y61Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.Y61Y|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	61	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCGTCTGTATAGAGAAAAGA	0.577																																						uc002qgh.1																			0		p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(181-183)taT>taC		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.							126.0	120.0	122.0					19																	55106242		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106242T>C	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.183T>C	19.37:g.55106242T>C						LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.Y61Y	p.Y61Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	3	365	+			61			Ig-like C2-type 1.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.183T>C	CCDS12901.1																																																																																				0.577	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	
POLR1A	25885	broad.mit.edu	37	2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:86272753C>T	ENST00000263857.6	-	20	3251	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	958					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512																																						uc002sqs.3																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2872-2874)gGc>gAc		Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.							80.0	92.0	88.0					2																	86272753		1909	4134	6043	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86272753C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2873G>A	2.37:g.86272753C>T	ENSP00000263857:p.Gly958Asp					POLR1A_uc010ytb.2_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	p.G958D	NM_015425	NP_056240	O95602	RPA1_HUMAN			19	3252	-			958					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2873G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036329	0.75617	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	D;D	0.94862	-3.54;-3.54	5.71	5.71	0.89125	RNA polymerase Rpb1, domain 5 (1);	0.053139	0.85682	D	0.000000	D	0.98422	0.9475	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99486	1.0949	10	0.87932	D	0	-25.7735	18.0404	0.89317	0.0:1.0:0.0:0.0	.	958	O95602	RPA1_HUMAN	D	958	ENSP00000263857:G958D;ENSP00000386300:G958D	ENSP00000263857:G958D	G	-	2	0	POLR1A	86126264	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.126000	0.77201	2.710000	0.92621	0.655000	0.94253	GGC		0.512	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
CFAP221	200373	broad.mit.edu	37	2	120385285	120385285	+	Missense_Mutation	SNP	C	C	T	rs375100921		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:120385285C>T	ENST00000413369.3	+	16	1660	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W	PCDP1_ENST00000602047.1_Missense_Mutation_p.R239W|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TTATACCAGCCGGTTCTCTGT	0.537																																						uc002tmb.3																			0											c.(715-717)Cgg>Tgg		Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	115.0	113.0		715	-0.8	0.0	2		113	0,8600		0,0,4300	no	missense	PCDP1	NM_001029996.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	239/555	120385285	1,13005	2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120385285C>T																												ENST00000413369.3:c.1573C>T	2.37:g.120385285C>T	ENSP00000393222:p.Arg525Trp					PCDP1_uc010yyq.2_Missense_Mutation_p.R369W	p.R239W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			16	1827	+	Colorectal(110;0.196)		525						Missense_Mutation	SNP	ENST00000413369.3	37	c.715C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921669	0.17982	2.27E-4	0.0	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.32272	1.46	4.18	-0.798	0.10905	.	1.574210	0.03595	N	0.232412	T	0.22126	0.0533	L	0.38175	1.15	0.09310	N	1	B;B	0.19073	0.01;0.033	B;B	0.10450	0.002;0.005	T	0.25779	-1.0122	10	0.56958	D	0.05	1.0638	0.8749	0.01222	0.1639:0.3951:0.1594:0.2816	.	369;525	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	W	239;525	ENSP00000393222:R525W	ENSP00000295220:R239W	R	+	1	2	AC069154.2	120101755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	-0.172000	0.10779	0.655000	0.94253	CGG		0.537	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
ZNF142	7701	broad.mit.edu	37	2	219503257	219503257	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:219503257G>A	ENST00000449707.1	-	10	5290	c.4869C>T	c.(4867-4869)tgC>tgT	p.C1623C	ZNF142_ENST00000411696.2_Silent_p.C1623C	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1623					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGAGGCGGCAAAAGAAGG	0.607																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.3																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4867-4869)tgC>tgT		Homo sapiens zinc finger protein 142 (ZNF142), mRNA.							62.0	71.0	68.0					2																	219503257		2098	4217	6315	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219503257G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4869C>T	2.37:g.219503257G>A						ZNF142_uc002vil.3_Silent_p.C1584C|ZNF142_uc010fvt.3_Silent_p.C1460C|ZNF142_uc002vim.3_Silent_p.C1460C	p.C1623C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	9	5305	-		Renal(207;0.0474)	1623					Q92510	Silent	SNP	ENST00000449707.1	37	c.4869C>T	CCDS42817.1																																																																																				0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
ISM1	140862	broad.mit.edu	37	20	13279761	13279761	+	Silent	SNP	C	C	T	rs572363345		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:13279761C>T	ENST00000262487.4	+	6	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	350	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.0					uc010gce.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1048-1050)gaC>gaT		Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.							41.0	47.0	45.0					20																	13279761		2144	4237	6381	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13279761C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1050C>T	20.37:g.13279761C>T						TASP1_uc010zri.1_Intron	p.D350D	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			5	1056	+			350			AMOP.		Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.1050C>T	CCDS46579.1																																																																																				0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
ZBTB46	140685	broad.mit.edu	37	20	62421878	62421878	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:62421878A>C	ENST00000245663.4	-	2	383	c.233T>G	c.(232-234)gTc>gGc	p.V78G	ZBTB46_ENST00000302995.2_Missense_Mutation_p.V78G|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.V78G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGGGCCGTGACGATGTCCAG	0.612																																						uc002ygv.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(232-234)gTc>gGc		Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.							74.0	63.0	67.0					20																	62421878		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421878A>C	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.233T>G	20.37:g.62421878A>C	ENSP00000245663:p.Val78Gly					ZBTB46_uc002ygu.3_Non-coding_Transcript	p.V78G	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			1	434	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		78			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.233T>G	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060837	0.76074	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.72051	-0.62;-0.62;-0.62	5.62	5.62	0.85841	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86707	0.1933	10	0.87932	D	0	.	14.9925	0.71399	1.0:0.0:0.0:0.0	.	78	Q86UZ6	ZBT46_HUMAN	G	78	ENSP00000245663:V78G;ENSP00000303102:V78G;ENSP00000378536:V78G	ENSP00000245663:V78G	V	-	2	0	ZBTB46	61892322	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.387000	0.79785	2.145000	0.66743	0.533000	0.62120	GTC		0.612	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:38892224C>T	ENST00000302328.3	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M|SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000450244.1_Missense_Mutation_p.V1359M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCGAACACGAGACCTTGA	0.308																																						uc021wvy.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(4075-4077)Gtg>Atg		Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	Cocaine(DB00907)						116.0	108.0	110.0					3																	38892224		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38892224C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4075G>A	3.37:g.38892224C>T	ENSP00000307599:p.Val1359Met					SCN11A_uc003cis.1_Missense_Mutation_p.V24M	p.V1359M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	24	4274	-			1359					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4075G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	5.739	0.320727	0.10845	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96554	-4.05;-4.05;-4.03;-3.89	4.98	4.11	0.48088	.	0.188740	0.46758	D	0.000276	D	0.91418	0.7292	M	0.62723	1.935	0.09310	N	0.999999	P	0.39737	0.685	B	0.24541	0.054	D	0.86277	0.1665	10	0.51188	T	0.08	.	2.6874	0.05111	0.1337:0.4982:0.209:0.159	.	1359	Q9UI33	SCNBA_HUMAN	M	1359;1359;1321;1359	ENSP00000307599:V1359M;ENSP00000400945:V1359M;ENSP00000416757:V1321M;ENSP00000408028:V1359M	ENSP00000307599:V1359M	V	-	1	0	SCN11A	38867228	0.000000	0.05858	0.507000	0.27676	0.171000	0.22731	-0.517000	0.06275	1.228000	0.43614	0.655000	0.94253	GTG		0.308	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
GPR128	84873	broad.mit.edu	37	3	100349573	100349573	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:100349573A>G	ENST00000273352.3	+	3	522	c.254A>G	c.(253-255)tAt>tGt	p.Y85C		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	85					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGTACCTATATGGGTTTT	0.323																																					Pancreas(87;185 1975 7223 18722)	uc003duc.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(253-255)tAt>tGt		Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.							65.0	67.0	66.0					3																	100349573		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100349573A>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.254A>G	3.37:g.100349573A>G	ENSP00000273352:p.Tyr85Cys						p.Y85C	NM_032787	NP_116176	Q96K78	GP128_HUMAN			2	522	+			85					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.254A>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363705	0.41902	.	.	ENSG00000144820	ENST00000273352	T	0.38560	1.13	5.82	-1.24	0.09435	.	1.097320	0.07011	N	0.825048	T	0.40398	0.1115	L	0.57536	1.79	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.30563	-0.9974	10	0.39692	T	0.17	.	0.3882	0.00406	0.4107:0.1463:0.1605:0.2825	.	85	Q96K78	GP128_HUMAN	C	85	ENSP00000273352:Y85C	ENSP00000273352:Y85C	Y	+	2	0	GPR128	101832263	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.527000	0.06200	-0.106000	0.12110	-0.323000	0.08544	TAT		0.323	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
EPHB1	2047	broad.mit.edu	37	3	134898744	134898744	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:134898744A>G	ENST00000398015.3	+	10	2172	c.1802A>G	c.(1801-1803)gAg>gGg	p.E601G	EPHB1_ENST00000493838.1_Missense_Mutation_p.E162G	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	601					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTTACGAGGATCCCAAC	0.483																																						uc003eqt.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1801-1803)gAg>gGg		Homo sapiens EPH receptor B1 (EPHB1), mRNA.							216.0	203.0	207.0					3																	134898744		1968	4199	6167	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134898744A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1802A>G	3.37:g.134898744A>G	ENSP00000381097:p.Glu601Gly					EPHB1_uc003equ.3_Missense_Mutation_p.E162G	p.E601G	NM_004441	NP_004432	P54762	EPHB1_HUMAN			9	2177	+			601					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1802A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652010	0.88056	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.24151	1.87;1.87	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.65508	-0.6151	10	0.56958	D	0.05	.	16.1997	0.82060	1.0:0.0:0.0:0.0	.	601	P54762	EPHB1_HUMAN	G	601;162	ENSP00000381097:E601G;ENSP00000419574:E162G	ENSP00000381097:E601G	E	+	2	0	EPHB1	136381434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.240000	0.73641	0.528000	0.53228	GAG		0.483	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
CORIN	10699	broad.mit.edu	37	4	47679958	47679958	+	Missense_Mutation	SNP	C	C	T	rs149563697	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:47679958C>T	ENST00000273857.4	-	9	1245	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	CORIN_ENST00000504584.1_Missense_Mutation_p.V379I|CORIN_ENST00000502252.1_Missense_Mutation_p.V349I|CORIN_ENST00000505909.1_Missense_Mutation_p.V379I|CORIN_ENST00000508498.1_Missense_Mutation_p.V277I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	416					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTTACTGACGCTGCAGTTC	0.493													C|||	12	0.00239617	0.0053	0.0	5008	,	,		20763	0.002		0.003	False		,,,				2504	0.0					uc003gxm.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1246-1248)Gtc>Atc		Homo sapiens corin, serine peptidase (CORIN), mRNA.		C	ILE/VAL	16,4390	23.3+/-48.9	0,16,2187	143.0	119.0	128.0		1246	0.4	0.0	4	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CORIN	NM_006587.2	29	0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384	benign	416/1043	47679958	18,12988	2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47679958C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1246G>A	4.37:g.47679958C>T	ENSP00000273857:p.Val416Ile					CORIN_uc011bzf.2_Missense_Mutation_p.V277I|CORIN_uc011bzg.2_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	p.V416I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			8	1339	-			416					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1246G>A	CCDS3477.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	3	0.00395778364116095	C	9.950	1.219789	0.22373	0.003631	2.33E-4	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.89343	-2.28;-2.28;-2.28;-2.5;-2.28	5.83	0.433	0.16534	.	0.895862	0.09856	N	0.746869	T	0.72495	0.3467	N	0.08118	0	0.09310	N	1	B;B;B;B	0.27140	0.017;0.059;0.169;0.022	B;B;B;B	0.21917	0.009;0.009;0.037;0.012	T	0.59456	-0.7451	10	0.23891	T	0.37	.	4.0723	0.09887	0.2697:0.4438:0.0:0.2865	.	379;379;349;416	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	I	416;277;349;379;379	ENSP00000273857:V416I;ENSP00000425597:V277I;ENSP00000424212:V349I;ENSP00000425401:V379I;ENSP00000423216:V379I	ENSP00000273857:V416I	V	-	1	0	CORIN	47374715	0.000000	0.05858	0.004000	0.12327	0.544000	0.35116	-0.172000	0.09868	0.078000	0.16900	0.591000	0.81541	GTC		0.493	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
UGT2B15	7366	broad.mit.edu	37	4	69536075	69536075	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69536075C>A	ENST00000338206.5	-	1	271	c.262G>T	c.(262-264)Gat>Tat	p.D88Y		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	88					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	AGAAGAGAATCTTCCAAATAA	0.294																																						uc021xow.1																			0											c.(262-264)Gat>Tat		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.							75.0	88.0	84.0					4																	69536075		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536075C>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.262G>T	4.37:g.69536075C>A	ENSP00000341045:p.Asp88Tyr						p.D88Y	NM_001076	NP_001067	P54855	UDB15_HUMAN			0	420	-			88					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.262G>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	3.277	-0.147959	0.06627	.	.	ENSG00000196620	ENST00000338206	T	0.60171	0.21	2.79	-3.11	0.05299	.	4.222330	0.01210	U	0.007801	T	0.44829	0.1312	L	0.45051	1.395	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.12293	-1.0553	10	0.46703	T	0.11	.	0.5104	0.00594	0.4141:0.2064:0.1457:0.2338	.	88	P54855	UDB15_HUMAN	Y	88	ENSP00000341045:D88Y	ENSP00000341045:D88Y	D	-	1	0	UGT2B15	69218670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.038000	0.00634	-0.711000	0.04995	-0.497000	0.04613	GAT		0.294	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076	
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1360-1362)Gcc>Tcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870669C>A																													4.37:g.69870669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.A370S	p.A454S			P36537	UDB10_HUMAN			7	1486	-			498						Missense_Mutation	SNP		37	c.1360G>T																																																																																				0	0.448								
WDFY3	23001	broad.mit.edu	37	4	85611704	85611704	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:85611704C>G	ENST00000295888.4	-	61	9725	c.9318G>C	c.(9316-9318)gaG>gaC	p.E3106D	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.E3089D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3106	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTGCCCATCTCCCACACAC	0.517																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9316-9318)gaG>gaC		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							206.0	174.0	185.0					4																	85611704		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85611704C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9318G>C	4.37:g.85611704C>G	ENSP00000295888:p.Glu3106Asp						p.E3106D	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	60	9726	-		Hepatocellular(203;0.114)	3106					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9318G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342301	0.41498	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.19105	2.17;2.17	6.02	4.29	0.51040	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	L	0.49256	1.55	0.58432	D	0.999999	B	0.23540	0.087	B	0.20955	0.032	T	0.03887	-1.0995	10	0.09843	T	0.71	.	9.5464	0.39284	0.0:0.7239:0.0:0.2761	.	3106	Q8IZQ1	WDFY3_HUMAN	D	3089;3106	ENSP00000318466:E3089D;ENSP00000295888:E3106D	ENSP00000295888:E3106D	E	-	3	2	WDFY3	85830728	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.226000	0.42963	1.553000	0.49476	-0.145000	0.13849	GAG		0.517	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
FSTL5	56884	broad.mit.edu	37	4	162577555	162577555	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:162577555T>C	ENST00000306100.5	-	7	1255	c.819A>G	c.(817-819)caA>caG	p.Q273Q	FSTL5_ENST00000536695.1_Silent_p.Q272Q|FSTL5_ENST00000427802.2_Silent_p.Q272Q|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.Q272Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	273	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGGGTTCCTTGAATGGCAC	0.388																																						uc003iqh.3																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(817-819)caA>caG		Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.							93.0	88.0	90.0					4																	162577555		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162577555T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.819A>G	4.37:g.162577555T>C						FSTL5_uc003iqi.3_Silent_p.Q272Q|FSTL5_uc010iqv.3_Silent_p.Q272Q	p.Q273Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1255	-	all_hematologic(180;0.24)		273			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.819A>G	CCDS3802.1																																																																																				0.388	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
CDH9	1007	broad.mit.edu	37	5	26988213	26988213	+	Splice_Site	SNP	C	C	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:26988213C>G	ENST00000231021.4	-	2	400	c.228G>C	c.(226-228)aaG>aaC	p.K76N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTCTTACCTTGCCTACAT	0.348																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.e2+1		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							62.0	60.0	61.0					5																	26988213		2203	4300	6503	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988213C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.228+1G>C	5.37:g.26988213C>G						CDH9_uc010iug.3_Splice_Site_p.K76_splice	p.K76_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	397	-			76			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.228_splice	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750032	0.69533	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.52526	0.66;0.66;1.22	5.64	5.64	0.86602	Cadherin (2);Cadherin-like (1);	0.049791	0.85682	D	0.000000	T	0.76140	0.3946	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.81914	0.995;0.97	T	0.81113	-0.1080	9	.	.	.	.	18.2526	0.90009	0.0:1.0:0.0:0.0	.	76;76	E7EPN0;Q9ULB4	.;CADH9_HUMAN	N	76	ENSP00000231021:K76N;ENSP00000426239:K76N;ENSP00000422538:K76N	.	K	-	3	2	CDH9	27023970	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.447000	0.80620	2.652000	0.90054	0.591000	0.81541	AAG		0.348	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Missense_Mutation
TEX43	389320	broad.mit.edu	37	5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A	rs186319310		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:125971812G>A	ENST00000357147.3	+	3	297	c.284G>A	c.(283-285)cGt>cAt	p.R95H		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		95										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						GGGGAAGATCGTAAAGTTGTC	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		16693	0.0		0.001	False		,,,				2504	0.0					uc003kub.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(283-285)cGt>cAt		Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.							128.0	133.0	132.0					5																	125971812		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125971812G>A																												ENST00000357147.3:c.284G>A	5.37:g.125971812G>A	ENSP00000349669:p.Arg95His						p.R95H	NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN			2	297	+			95						Missense_Mutation	SNP	ENST00000357147.3	37	c.284G>A	CCDS4139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.772	0.326805	0.10900	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.29	3.43	0.39272	.	0.000000	0.51477	D	0.000087	T	0.33352	0.0860	L	0.29908	0.895	0.29355	N	0.865083	B	0.17667	0.023	B	0.14578	0.011	T	0.28396	-1.0045	9	0.54805	T	0.06	-20.3407	8.556	0.33480	0.1862:0.0:0.8138:0.0	.	95	Q6ZNM6	CE048_HUMAN	H	95	.	ENSP00000349669:R95H	R	+	2	0	C5orf48	125999711	0.576000	0.26700	0.702000	0.30337	0.075000	0.17131	2.531000	0.45650	1.144000	0.42321	-0.448000	0.05591	CGT		0.443	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1		
IK	3550	broad.mit.edu	37	5	140033536	140033536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140033536delG	ENST00000417647.2	+	6	557	c.418delG	c.(418-420)gcafs	p.A140fs		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	140					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCAGCTGCAGAGAAGAG	0.478																																						uc003lgq.3																			0				large_intestine(1)	1						c.(418-420)gcafs		Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.							87.0	81.0	83.0					5																	140033536		1907	4130	6037	SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140033536delG	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.418delG	5.37:g.140033536delG	ENSP00000396301:p.Ala140fs					IK_uc011czk.1_Frame_Shift_Del_p.A140fs|IK_uc021yen.1_Frame_Shift_Del_p.A81fs	p.A140fs	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	528	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	140					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.418delG	CCDS47280.1																																																																																				0.478	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	
PCDHGA9	56107	broad.mit.edu	37	5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A	rs370966293		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140783915G>A	ENST00000573521.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	466	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACAACGCCAGAGGTAC	0.468																																						uc003lkh.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1396-1398)Gcc>Acc		Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.							82.0	81.0	82.0					5																	140783915		1945	4165	6110	SO:0001583	missense	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140783915G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1396G>A	5.37:g.140783915G>A	ENSP00000460274:p.Ala466Thr					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.A466T	p.A466T	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1396	+			468			Cadherin 5.		A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1396G>A	CCDS58981.1																																																																																				0.468	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
GRIA1	2890	broad.mit.edu	37	5	153149798	153149798	+	Missense_Mutation	SNP	G	G	A	rs531706550		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:153149798G>A	ENST00000285900.5	+	13	2436	c.2093G>A	c.(2092-2094)cGg>cAg	p.R698Q	GRIA1_ENST00000521843.2_Missense_Mutation_p.R629Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R618Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R708Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R708Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R698Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	698					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTTTTTGTGCGGACCACAGAG	0.468																																						uc011dcy.2																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2122-2124)cGg>cAg		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						140.0	129.0	133.0					5																	153149798		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149798G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2093G>A	5.37:g.153149798G>A	ENSP00000285900:p.Arg698Gln					GRIA1_uc003lva.4_Missense_Mutation_p.R698Q|GRIA1_uc003luy.4_Missense_Mutation_p.R698Q|GRIA1_uc003luz.4_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.2_Missense_Mutation_p.R629Q|GRIA1_uc011dcz.2_Missense_Mutation_p.R708Q	p.R708Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		12	2150	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	698					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2123G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802618	0.50315	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.104565	0.64402	D	0.000004	T	0.21631	0.0521	N	0.10707	0.03	0.41453	D	0.987995	P;P;B;P;B	0.43662	0.814;0.814;0.007;0.579;0.041	B;B;B;B;B	0.40659	0.336;0.336;0.007;0.151;0.029	T	0.08911	-1.0699	10	0.72032	D	0.01	.	11.6186	0.51104	0.081:0.0:0.919:0.0	.	708;708;618;698;698	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	698;698;618;652;698;631;629;708;708	ENSP00000285900:R698Q;ENSP00000427920:R618Q;ENSP00000339343:R698Q;ENSP00000427864:R631Q;ENSP00000442108:R629Q;ENSP00000428994:R708Q;ENSP00000415569:R708Q	ENSP00000285900:R698Q	R	+	2	0	GRIA1	153129991	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	2.963000	0.49184	2.525000	0.85131	0.655000	0.94253	CGG		0.468	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
RNF130	55819	broad.mit.edu	37	5	179393829	179393829	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:179393829C>T	ENST00000261947.4	-	7	1525	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	RNF130_ENST00000521389.1_Missense_Mutation_p.G376E|CTC-563A5.2_ENST00000510240.1_RNA|RNF130_ENST00000522208.2_Missense_Mutation_p.G376E	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGATTTCTCCTGTTCTCGG	0.587																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1126-1128)gGa>gAa		Homo sapiens ring finger protein 130 (RNF130), mRNA.							95.0	88.0	91.0					5																	179393829		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179393829C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.1127G>A	5.37:g.179393829C>T	ENSP00000261947:p.Gly376Glu					RNF130_uc003mlm.1_Missense_Mutation_p.G376E	p.G376E	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1534	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	376						Missense_Mutation	SNP	ENST00000261947.4	37	c.1127G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.165868	0.78339	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.06933	3.4;3.38;3.24	5.26	5.26	0.73747	.	0.171965	0.51477	D	0.000088	T	0.18215	0.0437	L	0.29908	0.895	0.58432	D	0.999999	B;D	0.89917	0.287;1.0	B;D	0.71656	0.057;0.974	T	0.09751	-1.0660	10	0.21014	T	0.42	.	18.8618	0.92275	0.0:1.0:0.0:0.0	.	393;376	Q59EL1;Q86XS8	.;GOLI_HUMAN	E	376	ENSP00000429509:G376E;ENSP00000430237:G376E;ENSP00000261947:G376E	ENSP00000261947:G376E	G	-	2	0	RNF130	179326435	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.171000	0.71926	2.435000	0.82474	0.491000	0.48974	GGA		0.587	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434	
HIVEP1	3096	broad.mit.edu	37	6	12123451	12123451	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:12123451C>T	ENST00000379388.2	+	4	3755	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1141					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACACCAACTCCCTGAGCAGGC	0.507																																						uc003nac.3																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3421-3423)tcC>tcT		Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.							63.0	65.0	64.0					6																	12123451		1988	4151	6139	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123451C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3423C>T	6.37:g.12123451C>T						HIVEP1_uc011diq.2_Non-coding_Transcript	p.S1141S	NM_002114	NP_002105	P15822	ZEP1_HUMAN			3	3602	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1141					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3423C>T	CCDS43426.1																																																																																				0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
PGK2	5232	broad.mit.edu	37	6	49754388	49754388	+	Silent	SNP	G	G	A	rs147140024	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:49754388G>A	ENST00000304801.3	-	1	665	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	171					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACTATGAGCGCGGTGTGCAG	0.458																																						uc003ozu.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(511-513)cgC>cgT		Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	92.0	91.0	91.0		513	-2.1	0.9	6	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PGK2	NM_138733.4		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		171/418	49754388	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754388G>A	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.513C>T	6.37:g.49754388G>A							p.R171R	NM_138733	NP_620061	P07205	PGK2_HUMAN			0	666	-	Lung NSC(77;0.0402)		171					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.513C>T	CCDS4930.1																																																																																				0.458	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
INHBA	3624	broad.mit.edu	37	7	41729925	41729925	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:41729925T>A	ENST00000242208.4	-	3	850	c.604A>T	c.(604-606)Agt>Tgt	p.S202C	INHBA_ENST00000442711.1_Missense_Mutation_p.S202C|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	202					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AACAGTTCACTCCTCTCCCCC	0.582										TSP Lung(11;0.080)																												uc003thq.3																			0		p.R201S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(604-606)Agt>Tgt		Homo sapiens inhibin, beta A (INHBA), mRNA.							83.0	75.0	78.0					7																	41729925		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729925T>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.604A>T	7.37:g.41729925T>A	ENSP00000242208:p.Ser202Cys	TSP Lung(11;0.080)				INHBA_uc003thr.3_Missense_Mutation_p.S202C	p.S202C	NM_002192	NP_002183	P08476	INHBA_HUMAN			1	839	-			202					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.604A>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.123953	0.77436	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.67698	-0.28;-0.28	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.436137	0.30704	N	0.009041	T	0.66336	0.2779	L	0.40543	1.245	0.39980	D	0.974903	P	0.51147	0.942	P	0.51016	0.656	T	0.69624	-0.5095	10	0.51188	T	0.08	-7.2477	11.6151	0.51086	0.0:0.0686:0.0:0.9314	.	202	P08476	INHBA_HUMAN	C	202	ENSP00000242208:S202C;ENSP00000397197:S202C	ENSP00000242208:S202C	S	-	1	0	INHBA	41696450	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.058000	0.49939	2.324000	0.78689	0.533000	0.62120	AGT		0.582	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
POR	5447	broad.mit.edu	37	7	75617603	75617603	+	IGR	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:75617603A>C	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GCTCTCCCGGATGGTCAGGGT	0.652																																						uc003ued.3																			0											c.(526-528)aTc>aGc		Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.							57.0	59.0	58.0					7																	75617603		1997	4158	6155	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75617603A>C	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617603A>C						TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Missense_Mutation_p.I81S|TMEM120A_uc022agl.1_Missense_Mutation_p.I81S	p.I176S	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN			6	631	-			177					Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.527T>G	CCDS5579.1																																																																																				0.652	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	
SMURF1	57154	broad.mit.edu	37	7	98636012	98636012	+	Splice_Site	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:98636012G>A	ENST00000361125.1	-	15	2084	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Splice_Site_p.R563W	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	589	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCATTACCGGACGTATTCT	0.577																																						uc003upu.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25						c.e15+1		Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.							87.0	73.0	78.0					7																	98636012		2203	4300	6503	SO:0001630	splice_region_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98636012G>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1766+1C>T	7.37:g.98636012G>A						SMURF1_uc003upv.2_Splice_Site_p.R563_splice|SMURF1_uc003upt.3_Splice_Site_p.R563_splice	p.R589_splice	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		15	2106	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		589			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1766_splice	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915589	0.52546	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.59638	0.25;0.25	5.5	3.7	0.42460	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.962;0.991;0.966	T	0.79522	-0.1769	10	0.87932	D	0	.	8.2326	0.31608	0.0749:0.0:0.512:0.4131	.	563;589;563	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	W	563;589	ENSP00000355326:R563W;ENSP00000354621:R589W	ENSP00000354621:R589W	R	-	1	2	SMURF1	98473948	1.000000	0.71417	0.998000	0.56505	0.269000	0.26545	3.693000	0.54735	0.812000	0.34326	-0.261000	0.10672	CGG		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	Missense_Mutation
PIK3CG	5294	broad.mit.edu	37	7	106509059	106509059	+	Silent	SNP	C	C	T	rs550240865		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:106509059C>T	ENST00000359195.3	+	2	1363	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	PIK3CG_ENST00000440650.2_Silent_p.T351T|PIK3CG_ENST00000496166.1_Silent_p.T351T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	351					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGTGTTCACCGTGTCCCTGT	0.572																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1051-1053)acC>acT		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							115.0	102.0	107.0					7																	106509059		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509059C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1053C>T	7.37:g.106509059C>T						PIK3CG_uc003vdu.3_Silent_p.T351T|PIK3CG_uc003vdw.3_Silent_p.T351T	p.T351T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	1138	+			351					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1053C>T	CCDS5739.1																																																																																				0.572	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PRSS1	5644	broad.mit.edu	37	7	142460295	142460295	+	Silent	SNP	C	C	T	rs146076691		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:142460295C>T	ENST00000311737.7	+	4	474	c.468C>T	c.(466-468)gaC>gaT	p.D156D	PRSS1_ENST00000486171.1_Silent_p.D170D	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	156	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	ACTACCCAGACGAGCTGCAGT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19772	0.0		0.0	False		,,,				2504	0.0					uc003wak.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(466-468)gaC>gaT		Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.		C		2,4404		0,2,2201	280.0	277.0	278.0		468	-5.3	0.6	7	dbSNP_134	278	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRSS1	NM_002769.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		156/248	142460295	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460295C>T	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.468C>T	7.37:g.142460295C>T						TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.D96D	p.D156D	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	485	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	156			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.468C>T	CCDS5872.1																																																																																				0.507	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
TRAPPC9	83696	broad.mit.edu	37	8	141310662	141310662	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr8:141310662T>C	ENST00000438773.2	-	11	1807	c.1674A>G	c.(1672-1674)aaA>aaG	p.K558K	TRAPPC9_ENST00000389328.4_Silent_p.K656K|TRAPPC9_ENST00000389327.3_Silent_p.K549K	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	558					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGCAAGCTTTTCATTTTGT	0.443																																						uc003yvh.2																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1966-1968)aaA>aaG		Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.							209.0	188.0	196.0					8																	141310662		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141310662T>C	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1674A>G	8.37:g.141310662T>C						TRAPPC9_uc003yvj.2_Silent_p.K558K|TRAPPC9_uc003yvi.1_Silent_p.K549K	p.K656K	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN			10	1983	-			558					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1968A>G	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	9.685	1.150339	0.21371	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.93	-3.82	0.04281	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34030	-0.9845	6	0.06099	T	0.92	.	13.9649	0.64202	0.0:0.4247:0.0:0.5753	.	.	.	.	E	402	.	ENSP00000430116:K402E	K	-	1	0	TRAPPC9	141379844	0.996000	0.38824	0.748000	0.31131	0.868000	0.49771	0.253000	0.18296	-1.431000	0.01982	-1.139000	0.01908	AAG		0.443	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
LINGO2	158038	broad.mit.edu	37	9	27949565	27949565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:27949565G>A	ENST00000379992.2	-	6	1554	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	LINGO2_ENST00000308675.3_Nonsense_Mutation_p.R369*	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTGGGCTGTCGCTGCAAGATC	0.547																																						uc003zqv.1																			0		p.R369Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1105-1107)Cga>Tga		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.							39.0	38.0	38.0					9																	27949565		2203	4300	6503	SO:0001587	stop_gained	158038					integral to membrane		g.chr9:27949565G>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1105C>T	9.37:g.27949565G>A	ENSP00000369328:p.Arg369*					LINGO2_uc010mjf.1_Nonsense_Mutation_p.R369*|LINGO2_uc003zqu.1_Nonsense_Mutation_p.R369*|LINGO2_uc022bfc.1_Nonsense_Mutation_p.R369*	p.R369*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1755	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	369			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Nonsense_Mutation	SNP	ENST00000379992.2	37	c.1105C>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175789	0.94807	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	.	.	.	6.16	3.02	0.34903	.	0.050823	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.318	0.82935	0.0:0.0:0.574:0.4259	.	.	.	.	X	369	.	.	R	-	1	2	LINGO2	27939565	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.675000	0.46875	0.887000	0.36136	-0.188000	0.12872	CGA		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
KLF9	687	broad.mit.edu	37	9	73002796	73002796	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:73002796G>A	ENST00000377126.2	-	2	1891	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	211					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTCATGAAGCGCTTCTCACAC	0.592																																						uc004aht.3																			0				endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(631-633)Cgc>Tgc		Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.							85.0	79.0	81.0					9																	73002796		2203	4300	6503	SO:0001583	missense	687				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:73002796G>A	BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.631C>T	9.37:g.73002796G>A	ENSP00000366330:p.Arg211Cys						p.R211C	NM_001206	NP_001197	Q13886	KLF9_HUMAN			1	1925	-			211					B2R943|Q16196	Missense_Mutation	SNP	ENST00000377126.2	37	c.631C>T	CCDS6633.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792186	0.70452	.	.	ENSG00000119138	ENST00000377126	T	0.36340	1.26	5.47	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.101842	0.35870	N	0.002932	T	0.32941	0.0846	N	0.22421	0.69	0.54753	D	0.999984	D	0.54964	0.969	P	0.49528	0.614	T	0.06625	-1.0816	10	0.44086	T	0.13	.	12.9889	0.58608	0.0:0.0:0.6966:0.3034	.	211	Q13886	KLF9_HUMAN	C	211	ENSP00000366330:R211C	ENSP00000366330:R211C	R	-	1	0	KLF9	72192616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.721000	0.38032	1.223000	0.43536	0.655000	0.94253	CGC		0.592	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052602.1	NM_001206	
EPB41L4B	54566	broad.mit.edu	37	9	112015778	112015778	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:112015778T>C	ENST00000374566.3	-	12	1739	c.1222A>G	c.(1222-1224)Acc>Gcc	p.T408A	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.T408A	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	408					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCAAAGGTGCTGGTTCTT	0.403																																						uc004bdz.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1222-1224)Acc>Gcc		Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.							172.0	176.0	175.0					9																	112015778		1899	4119	6018	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112015778T>C	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1222A>G	9.37:g.112015778T>C	ENSP00000363694:p.Thr408Ala					EPB41L4B_uc004bea.3_Missense_Mutation_p.T408A	p.T408A	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			11	1517	-			408					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.1222A>G	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310364	0.81358	.	.	ENSG00000095203	ENST00000262536;ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.85484	-1.99;-1.99	5.26	5.26	0.73747	FERM adjacent (FA) (1);	0.000000	0.41294	D	0.000917	D	0.86368	0.5916	L	0.38838	1.175	0.58432	D	0.999997	B;P	0.41947	0.229;0.766	B;P	0.54499	0.113;0.754	D	0.85111	0.0963	10	0.33940	T	0.23	.	15.4859	0.75569	0.0:0.0:0.0:1.0	.	408;408	Q9H329-2;Q9H329	.;E41LB_HUMAN	A	93;408;408;330	ENSP00000363694:T408A;ENSP00000363685:T408A	ENSP00000262536:T93A	T	-	1	0	EPB41L4B	111055599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.889000	0.69766	2.125000	0.65367	0.533000	0.62120	ACC		0.403	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
CDX4	1046	broad.mit.edu	37	X	72667327	72667327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:72667327C>T	ENST00000373514.2	+	1	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	80					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTCCCCCGCGAGAAGACTG	0.607																																						uc011mqk.2																			0		p.P79L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(238-240)Cga>Tga		Homo sapiens caudal type homeobox 4 (CDX4), mRNA.							55.0	45.0	49.0					X																	72667327		2203	4300	6503	SO:0001587	stop_gained	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667327C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.238C>T	X.37:g.72667327C>T	ENSP00000362613:p.Arg80*						p.R80*	NM_005193	NP_005184	O14627	CDX4_HUMAN			0	238	+	Renal(35;0.156)		80					A1A513|Q5JS20	Nonsense_Mutation	SNP	ENST00000373514.2	37	c.238C>T	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	18.97	3.736543	0.69304	.	.	ENSG00000131264	ENST00000373514	.	.	.	2.43	1.51	0.23008	.	0.067166	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9897	6.3502	0.21370	0.5298:0.4702:0.0:0.0	.	.	.	.	X	80	.	ENSP00000362613:R80X	R	+	1	2	CDX4	72584052	0.873000	0.30073	0.960000	0.40013	0.637000	0.38172	0.283000	0.18846	0.419000	0.25927	0.436000	0.28706	CGA		0.607	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193	
ATRX	546	broad.mit.edu	37	X	76918965	76918965	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:76918965C>T	ENST00000373344.5	-	12	4240	c.4026G>A	c.(4024-4026)cgG>cgA	p.R1342R	ATRX_ENST00000395603.3_Silent_p.R1304R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1342					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAATTTGTGCCGCAAAAGCC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.R1342W(1)|p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4024-4026)cgG>cgA		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						119.0	98.0	105.0					X																	76918965		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918965C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4026G>A	X.37:g.76918965C>T						ATRX_uc004ecq.4_Silent_p.R1304R|ATRX_uc004eco.4_Silent_p.R1127R|ATRX_uc004ecr.2_Silent_p.R1274R	p.R1342R	NM_000489	NP_000480	P46100	ATRX_HUMAN			11	4258	-			1342					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.4026G>A	CCDS14434.1																																																																																				0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
MAGEA8	4107	broad.mit.edu	37	X	149013838	149013838	+	Silent	SNP	G	G	A	rs376840959		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:149013838G>A	ENST00000542674.1	+	3	1313	c.792G>A	c.(790-792)gcG>gcA	p.A264A	MAGEA8_ENST00000535454.1_Silent_p.A264A|MAGEA8_ENST00000286482.1_Silent_p.A264A	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCAGGCGCCCGGCAGTG	0.582																																						uc022cgq.1																			1	Substitution - coding silent(1)	p.A264A(2)	breast(1)	NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(790-792)gcG>gcA		Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.		G	,,	0,3835		0,0,1632,571	108.0	103.0	105.0		792,792,792	1.0	0.1	X		105	1,6725		0,1,2427,1870	no	coding-synonymous,coding-synonymous,coding-synonymous	MAGEA8	NM_001166400.1,NM_001166401.1,NM_005364.4	,,	0,1,4059,2441	AA,AG,GG,G		0.0149,0.0,0.0095	,,	264/319,264/319,264/319	149013838	1,10560	2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013838G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.792G>A	X.37:g.149013838G>A						MAGEA8_uc022cgo.1_Silent_p.A264A|MAGEA8_uc004fdw.2_Silent_p.A264A|MAGEA8_uc022cgp.1_Silent_p.A264A	p.A264A	NM_005364	NP_005355	P43361	MAGA8_HUMAN			0	792	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE.		Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.792G>A	CCDS14692.1																																																																																				0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364	
