#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DDI2	84301	broad.mit.edu	37	1	15956966	15956966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:15956966C>T	ENST00000480945.1	+	3	586	c.415C>T	c.(415-417)Cga>Tga	p.R139*		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	139							aspartic-type endopeptidase activity (GO:0004190)	p.R139*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCCTTGCTCCGAGATATGTT	0.557																																							uc001awx.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(415-417)CGA>TGA		DNA-damage inducible protein 2							100.0	90.0	93.0					1																	15956966		2203	4300	6503	SO:0001587	stop_gained	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956966C>T		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.415C>T	1.37:g.15956966C>T	ENSP00000417748:p.Arg139*					DDI2_uc001aww.2_Nonsense_Mutation_p.R139*|DDI2_uc009voj.1_5'UTR	p.R139*	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	511	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	139					A8KAE1|Q7RTZ0|Q9BRT1	Nonsense_Mutation	SNP	ENST00000480945.1	37	c.415C>T	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	C	37	5.979680	0.97168	.	.	ENSG00000197312	ENST00000480945	.	.	.	5.67	5.67	0.87782	.	0.078896	0.53938	U	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3867	0.94560	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000449475:R24X	R	+	1	2	DDI2	15829553	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.517000	0.60503	2.684000	0.91462	0.650000	0.86243	CGA		0.557	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		4	54	0	0	0	0.009096	0	4	54				
LAPTM5	7805	broad.mit.edu	37	1	31211800	31211800	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:31211800G>A	ENST00000294507.3	-	5	571	c.497C>T	c.(496-498)tCc>tTc	p.S166F	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	166					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.S166F(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTCATGGACTTGAAGTT	0.542																																							uc001bsc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(496-498)TCC>TTC		lysosomal protein transmembrane 5							68.0	54.0	58.0					1																	31211800		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31211800G>A	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.497C>T	1.37:g.31211800G>A	ENSP00000294507:p.Ser166Phe						p.S166F	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	5	588	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	166					Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.497C>T	CCDS337.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758440	0.69763	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.51325	0.71	5.73	5.73	0.89815	.	0.492233	0.22153	N	0.063890	T	0.52741	0.1753	M	0.62723	1.935	0.45378	D	0.998368	P	0.49307	0.922	P	0.50136	0.632	T	0.44406	-0.9330	10	0.10111	T	0.7	-32.8948	15.3854	0.74695	0.0:0.0:1.0:0.0	.	166	Q13571	LAPM5_HUMAN	F	166	ENSP00000294507:S166F	ENSP00000294507:S166F	S	-	2	0	LAPTM5	30984387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.423000	0.66458	2.701000	0.92244	0.655000	0.94253	TCC		0.542	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		4	9	0	0	0	0.009096	0	4	9				
CFAP57	149465	broad.mit.edu	37	1	43638521	43638521	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:43638521C>G	ENST00000372492.4	+	2	421	c.97C>G	c.(97-99)Cct>Gct	p.P33A	EBNA1BP2_ENST00000431635.2_5'Flank|WDR65_ENST00000528956.1_Missense_Mutation_p.P33A|EBNA1BP2_ENST00000236051.2_5'Flank|EBNA1BP2_ENST00000472982.1_5'Flank	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		33								p.P33A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATTATATTTCCTTCAGGAAA	0.408																																							uc001cip.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(97-99)CCT>GCT		WD repeat domain 65							116.0	108.0	111.0					1																	43638521		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43638521C>G																												ENST00000372492.4:c.97C>G	1.37:g.43638521C>G	ENSP00000361570:p.Pro33Ala					EBNA1BP2_uc001cio.2_5'UTR|WDR65_uc010ojz.1_5'UTR|WDR65_uc001ciq.1_Missense_Mutation_p.P33A|EBNA1BP2_uc001cim.2_5'Flank|EBNA1BP2_uc001cin.2_5'Flank|EBNA1BP2_uc010ojx.1_5'Flank|EBNA1BP2_uc010ojy.1_5'Flank	p.P33A	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			2	218	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	33					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.97C>G		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427219	0.83667	.	.	ENSG00000243710	ENST00000372492;ENST00000528956;ENST00000529956	T;T;T	0.40756	5.07;1.02;5.07	5.27	5.27	0.74061	.	0.058771	0.64402	D	0.000001	T	0.55847	0.1946	M	0.87269	2.87	0.50813	D	0.999898	P	0.51351	0.944	P	0.49853	0.624	T	0.58864	-0.7561	10	0.13470	T	0.59	.	15.1919	0.73049	0.0:0.8586:0.1414:0.0	.	33	Q96MR6-2	.	A	33	ENSP00000361570:P33A;ENSP00000435310:P33A;ENSP00000434133:P33A	ENSP00000361570:P33A	P	+	1	0	WDR65	43411108	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.590000	0.61013	2.453000	0.82957	0.655000	0.94253	CCT		0.408	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			8	47	0	0	0	0.00308	0	8	47				
SYCP1	6847	broad.mit.edu	37	1	115455691	115455691	+	Missense_Mutation	SNP	C	C	G	rs201193175		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:115455691C>G	ENST00000369522.3	+	19	1807	c.1567C>G	c.(1567-1569)Ctt>Gtt	p.L523V	SYCP1_ENST00000369518.1_Missense_Mutation_p.L523V	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	523				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.L523V(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCAACAAGCTTTCACTAGA	0.299																																							uc001efr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1567-1569)CTT>GTT		synaptonemal complex protein 1							110.0	116.0	114.0					1																	115455691		2203	4300	6503	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115455691C>G	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1567C>G	1.37:g.115455691C>G	ENSP00000358535:p.Leu523Val					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.L523V|SYCP1_uc009wgw.2_Missense_Mutation_p.L523V	p.L523V	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	1776	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	523	LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).		Potential.		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1567C>G	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876853	0.51801	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57595	0.39;0.39;0.39	5.32	2.33	0.28932	.	0.725592	0.12513	N	0.462344	T	0.33089	0.0851	M	0.64997	1.995	0.35451	D	0.795664	P;P	0.42203	0.773;0.773	B;B	0.42138	0.377;0.377	T	0.26395	-1.0104	10	0.66056	D	0.02	-0.3023	4.7771	0.13184	0.1704:0.6475:0.0:0.1821	.	523;523	B7ZLS9;Q15431	.;SYCP1_HUMAN	V	523	ENSP00000358535:L523V;ENSP00000410011:L523V;ENSP00000358531:L523V	ENSP00000358531:L523V	L	+	1	0	SYCP1	115257214	0.013000	0.17824	0.625000	0.29200	0.958000	0.62258	-0.051000	0.11885	0.622000	0.30249	0.561000	0.74099	CTT		0.299	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		28	72	0	0	0	0.009535	0	28	72				
PDE4DIP	9659	broad.mit.edu	37	1	144874682	144874682	+	Splice_Site	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:144874682T>C	ENST00000369354.3	-	30	5115	c.4926A>G	c.(4924-4926)tcA>tcG	p.S1642S	AL138796.1_ENST00000582173.1_RNA|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Splice_Site_p.S1642S|PDE4DIP_ENST00000313382.9_Splice_Site_p.S1598S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Splice_Site_p.S1778S|PDE4DIP_ENST00000530740.1_Splice_Site_p.S1778S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1642	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S1642S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAGGCTACCTGAGTGACTGG	0.498			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4924-4926)TCA>TCG		phosphodiesterase 4D interacting protein isoform							247.0	229.0	235.0					1																	144874682		2203	4296	6499	SO:0001630	splice_region_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144874682T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4927+1A>G	1.37:g.144874682T>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.S1598S|PDE4DIP_uc001elv.3_Silent_p.S649S	p.S1642S	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	5217	-			1642			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.4926A>G	CCDS30824.1																																																																																				0.498	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Silent	134	363	0	0	0	0.01441	0	134	363				
TCHHL1	126637	broad.mit.edu	37	1	152058113	152058113	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:152058113T>C	ENST00000368806.1	-	3	2109	c.2045A>G	c.(2044-2046)gAc>gGc	p.D682G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	682							calcium ion binding (GO:0005509)	p.D682G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGAAAGCTGGTCAGTGAAGTC	0.478																																							uc001ezo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2044-2046)GAC>GGC		trichohyalin-like 1							175.0	179.0	178.0					1																	152058113		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058113T>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2045A>G	1.37:g.152058113T>C	ENSP00000357796:p.Asp682Gly						p.D682G	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2110	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		682					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2045A>G	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.748350	0.49257	.	.	ENSG00000182898	ENST00000368806	T	0.26518	1.73	4.54	0.778	0.18543	.	1.475580	0.04848	N	0.441702	T	0.08935	0.0221	L	0.47716	1.5	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	T	0.35001	-0.9806	10	0.39692	T	0.17	0.0	6.7934	0.23711	0.0:0.3104:0.0:0.6896	.	682	Q5QJ38	TCHL1_HUMAN	G	682	ENSP00000357796:D682G	ENSP00000357796:D682G	D	-	2	0	TCHHL1	150324737	0.002000	0.14202	0.004000	0.12327	0.064000	0.16182	0.316000	0.19469	0.147000	0.19030	0.533000	0.62120	GAC		0.478	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		118	229	0	0	0	0.01441	0	118	229				
HRNR	388697	broad.mit.edu	37	1	152191409	152191409	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:152191409C>A	ENST00000368801.2	-	3	2771	c.2696G>T	c.(2695-2697)gGg>gTg	p.G899V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	899					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G899V(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCCTGACCCAGACCCACG	0.647																																							uc001ezt.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2695-2697)GGG>GTG		hornerin							89.0	101.0	97.0					1																	152191409		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191409C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2696G>T	1.37:g.152191409C>A	ENSP00000357791:p.Gly899Val						p.G899V	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2772	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		899			10.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2696G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	6.466	0.454231	0.12283	.	.	ENSG00000197915	ENST00000368801	T	0.01584	4.75	3.45	0.294	0.15747	.	.	.	.	.	T	0.01523	0.0049	L	0.48642	1.525	0.09310	N	1	D	0.69078	0.997	P	0.60789	0.879	T	0.48490	-0.9031	9	0.48119	T	0.1	.	4.5416	0.12059	0.0:0.5862:0.1852:0.2286	.	899	Q86YZ3	HORN_HUMAN	V	899	ENSP00000357791:G899V	ENSP00000357791:G899V	G	-	2	0	HRNR	150458033	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.269000	0.18589	-0.132000	0.11557	0.505000	0.49811	GGG		0.647	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		42	208	1	0	7.05121e-23	0.010771	1.43263e-22	42	208				
IGSF8	93185	broad.mit.edu	37	1	160063787	160063787	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:160063787A>C	ENST00000368086.1	-	3	833	c.617T>G	c.(616-618)gTg>gGg	p.V206G	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.V206G			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	206	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V206G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGCCTCGGGCACAGATCGCCC	0.627																																							uc001fva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GTG>GGG		immunoglobulin superfamily, member 8							97.0	90.0	92.0					1																	160063787		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063787A>C	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.617T>G	1.37:g.160063787A>C	ENSP00000357065:p.Val206Gly					IGSF8_uc001fuz.2_Missense_Mutation_p.V206G|IGSF8_uc009wtf.2_Missense_Mutation_p.V206G	p.V206G	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		3	662	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		206			Extracellular (Potential).|Ig-like C2-type 2.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.617T>G	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	A	3.169	-0.170408	0.06461	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.22743	1.94;1.94;1.94	3.74	3.74	0.42951	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.763019	0.11823	N	0.526045	T	0.01976	0.0062	N	0.00926	-1.1	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.45934	-0.9227	10	0.21014	T	0.42	-0.9427	8.4132	0.32655	0.8019:0.1981:0.0:0.0	.	206	Q969P0	IGSF8_HUMAN	G	206	ENSP00000316664:V206G;ENSP00000357065:V206G;ENSP00000397464:V206G	ENSP00000316664:V206G	V	-	2	0	IGSF8	158330411	0.002000	0.14202	0.416000	0.26546	0.709000	0.40893	0.553000	0.23391	1.706000	0.51276	0.402000	0.26972	GTG		0.627	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		10	115	0	0	0	0.008291	0	10	115				
TBX19	9095	broad.mit.edu	37	1	168262479	168262479	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:168262479C>T	ENST00000367821.3	+	3	617	c.566C>T	c.(565-567)aCc>aTc	p.T189I		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	189					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T189I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TTCCCTGAAACCCAGTTCATA	0.468																																							uc001gfl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(565-567)ACC>ATC		T-box 19							96.0	75.0	82.0					1																	168262479		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168262479C>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.566C>T	1.37:g.168262479C>T	ENSP00000356795:p.Thr189Ile					TBX19_uc001gfj.3_Missense_Mutation_p.T120I	p.T189I	NM_005149	NP_005140	O60806	TBX19_HUMAN			3	617	+	all_hematologic(923;0.215)		189			T-box.		Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.566C>T	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733329	0.89482	.	.	ENSG00000143178	ENST00000367821;ENST00000367828	D	0.91011	-2.77	5.02	5.02	0.67125	p53-like transcription factor, DNA-binding (1);	0.069258	0.56097	D	0.000024	D	0.97201	0.9085	H	0.98577	4.27	0.49389	D	0.999784	D;D	0.76494	0.999;0.993	D;P	0.68483	0.958;0.79	D	0.99000	1.0811	9	0.87932	D	0	.	17.9571	0.89073	0.0:1.0:0.0:0.0	.	189;120	O60806;B3KRD9	TBX19_HUMAN;.	I	189;129	ENSP00000356795:T189I	ENSP00000356795:T189I	T	+	2	0	TBX19	166529103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	2.323000	0.78572	0.563000	0.77884	ACC		0.468	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		15	56	0	0	0	0.003163	0	15	56				
BRINP2	57795	broad.mit.edu	37	1	177250606	177250606	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:177250606C>T	ENST00000361539.4	+	8	2606	c.2294C>T	c.(2293-2295)gCt>gTt	p.A765V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	765					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.A765V(1)									TCCCTGAGGGCTTTCAATTCT	0.557																																							uc001glf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2293-2295)GCT>GTT		family with sequence similarity 5, member B							71.0	75.0	73.0					1																	177250606		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250606C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2294C>T	1.37:g.177250606C>T	ENSP00000354481:p.Ala765Val					FAM5B_uc001glg.2_Missense_Mutation_p.A660V	p.A765V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2606	+			765					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2294C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741459	0.30865	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14640	2.49	5.05	5.05	0.67936	.	0.308105	0.36134	N	0.002774	T	0.17408	0.0418	L	0.50333	1.59	0.45930	D	0.998769	P;B	0.50819	0.939;0.19	B;B	0.42625	0.393;0.051	T	0.01748	-1.1282	10	0.39692	T	0.17	-1.3331	17.9969	0.89187	0.0:1.0:0.0:0.0	.	660;765	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	518;765	ENSP00000354481:A765V	ENSP00000354481:A765V	A	+	2	0	FAM5B	175517229	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.907000	0.69908	2.346000	0.79739	0.313000	0.20887	GCT		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		14	125	0	0	0	0.004007	0	14	125				
SYT14	255928	broad.mit.edu	37	1	210334260	210334260	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:210334260A>C	ENST00000472886.1	+	8	1555	c.1541A>C	c.(1540-1542)aAa>aCa	p.K514T	SYT14_ENST00000422431.1_Missense_Mutation_p.K578T|SYT14_ENST00000534859.1_Missense_Mutation_p.K540T|SYT14_ENST00000367019.1_Missense_Mutation_p.K533T|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.K476T|SYT14_ENST00000367015.1_Missense_Mutation_p.K476T|SYT14_ENST00000399639.2_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	514	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.			K -> E (in Ref. 1; BAC76809 and 3; BAC03682). {ECO:0000305}.	cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.K514T(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGAAAAGAAAAGAGATGATA	0.393																																							uc009xcv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1540-1542)AAA>ACA		synaptotagmin XIV isoform 4							139.0	135.0	136.0					1																	210334260		2203	4299	6502	SO:0001583	missense	255928					integral to membrane		g.chr1:210334260A>C	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1541A>C	1.37:g.210334260A>C	ENSP00000418901:p.Lys514Thr					SYT14_uc001hhs.3_Missense_Mutation_p.K578T|SYT14_uc001hht.3_Missense_Mutation_p.K533T|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.K559T|SYT14_uc010pso.1_Missense_Mutation_p.K476T|SYT14_uc010psp.1_Missense_Mutation_p.K52T	p.K514T	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	8	1613	+			514	K -> E (in Ref. 1; BAC76809 and 3; BAC03682).		Cytoplasmic (Potential).|C2 2.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.1541A>C	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137441	0.56936	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	M	0.79475	2.455	0.80722	D	1	D;P;D;D	0.76494	0.97;0.939;0.999;0.999	P;P;D;D	0.83275	0.868;0.826;0.996;0.969	D	0.86306	0.1683	10	0.72032	D	0.01	-27.7796	15.9532	0.79859	1.0:0.0:0.0:0.0	.	561;514;533;578	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	T	578;540;476;533;514;476	ENSP00000389039:K578T;ENSP00000442891:K540T;ENSP00000437423:K476T;ENSP00000355986:K533T;ENSP00000418901:K514T;ENSP00000355982:K476T	ENSP00000355982:K476T	K	+	2	0	SYT14	208400883	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.823000	0.62694	2.220000	0.72140	0.477000	0.44152	AAA		0.393	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		93	121	0	0	0	0.01441	0	93	121				
BPNT1	10380	broad.mit.edu	37	1	220246208	220246208	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:220246208G>C	ENST00000469520.2	-	5	766	c.317C>G	c.(316-318)gCt>gGt	p.A106G	BPNT1_ENST00000544404.1_Missense_Mutation_p.A51G|BPNT1_ENST00000414869.2_Intron|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.A106G|BPNT1_ENST00000322067.7_Missense_Mutation_p.A106G			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	106					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.A106G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TTCTTTAATAGCACTGTACTG	0.393																																							uc001hma.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(316-318)GCT>GGT		3'(2'), 5'-bisphosphate nucleotidase 1							223.0	204.0	210.0					1																	220246208		1909	4133	6042	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220246208G>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.317C>G	1.37:g.220246208G>C	ENSP00000446828:p.Ala106Gly					BPNT1_uc010pug.1_Missense_Mutation_p.A51G|BPNT1_uc010puh.1_Intron|BPNT1_uc001hmb.3_Missense_Mutation_p.A106G	p.A106G	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	4	489	-			106					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.317C>G	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	4.619	0.114958	0.08831	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000480959;ENST00000498237	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.47	4.56	0.56223	.	0.775955	0.12590	N	0.455678	T	0.25044	0.0608	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14364	-1.0475	10	0.22109	T	0.4	.	11.3444	0.49552	0.0:0.2424:0.6361:0.1214	.	106;106	A6NF51;O95861	.;BPNT1_HUMAN	G	106;106;106;106;51;51;106	ENSP00000318852:A106G;ENSP00000446828:A106G;ENSP00000346862:A106G;ENSP00000444398:A51G;ENSP00000448740:A51G;ENSP00000449883:A106G	ENSP00000307087:A106G	A	-	2	0	BPNT1	218312831	0.004000	0.15560	0.209000	0.23619	0.518000	0.34316	1.543000	0.36147	1.453000	0.47775	-0.175000	0.13238	GCT		0.393	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		14	172	0	0	0	0.004007	0	14	172				
PYCR2	29920	broad.mit.edu	37	1	226110038	226110038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:226110038G>T	ENST00000343818.6	-	3	332	c.184C>A	c.(184-186)Cac>Aac	p.H62N	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.H62N	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	62					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)	p.H62N(1)		kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	ACGTCGCTGTGCTTCACCGTC	0.572																																							uc010pvj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CAC>AAC		SubName: Full=cDNA FLJ54750, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2);							125.0	91.0	102.0					1																	226110038		2203	4300	6503	SO:0001583	missense	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226110038G>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.184C>A	1.37:g.226110038G>T	ENSP00000342502:p.His62Asn					PYCR2_uc001hpp.2_Missense_Mutation_p.H26N|PYCR2_uc001hpq.2_Missense_Mutation_p.H62N|PYCR2_uc001hpr.2_Missense_Mutation_p.H15N|PYCR2_uc001hps.1_Missense_Mutation_p.H15N	p.H62N			O75610	LFTY1_HUMAN			3	339	-	Breast(184;0.197)		Error:Variant_position_missing_in_O75610_after_alignment					A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.184C>A	CCDS31043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.84|12.84	2.059728|2.059728	0.36373|0.36373	.|.	.|.	ENSG00000143811|ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000316940|ENST00000432920;ENST00000343818;ENST00000316918	.|T;T	.|0.61859	.|0.07;0.07	5.06|5.06	0.635|0.635	0.17723|0.17723	.|NAD(P)-binding domain (1);	.|0.396218	.|0.29631	.|N	.|0.011608	T|T	0.38585|0.38585	0.1046|0.1046	N|N	0.12471|0.12471	0.22|0.22	0.24544|0.24544	N|N	0.994052|0.994052	.|B;B	.|0.20052	.|0.041;0.0	.|B;B	.|0.38428	.|0.273;0.006	T|T	0.40175|0.40175	-0.9577|-0.9577	6|10	0.05351|0.12103	T|T	0.99|0.63	-15.3557|-15.3557	7.9049|7.9049	0.29757|0.29757	0.08:0.0:0.3271:0.5929|0.08:0.0:0.3271:0.5929	.|.	.|62;62	.|E7EUD8;Q96C36	.|.;P5CR2_HUMAN	E|N	61|62;62;15	.|ENSP00000414068:H62N;ENSP00000342502:H62N	ENSP00000321781:A61E|ENSP00000321499:H15N	A|H	-|-	2|1	0|0	PYCR2|PYCR2;RP4-559A3.7	224176661|224176661	0.998000|0.998000	0.40836|0.40836	0.404000|0.404000	0.26397|0.26397	0.916000|0.916000	0.54674|0.54674	1.965000|1.965000	0.40471|0.40471	-0.076000|-0.076000	0.12775|0.12775	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.572	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		67	57	1	0	4.29146e-36	0.01441	9.63696e-36	67	57				
FMN2	56776	broad.mit.edu	37	1	240635749	240635749	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:240635749G>T	ENST00000319653.9	+	17	5368	c.5138G>T	c.(5137-5139)gGa>gTa	p.G1713V	FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000545751.1_Missense_Mutation_p.G309V|AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000543681.1_Missense_Mutation_p.G33V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1713					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1856L(1)|p.G1856V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATGACTCTGGAATTGTAAGT	0.279																																							uc010pyd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(5137-5139)GGA>GTA		formin 2							65.0	73.0	70.0					1																	240635749		2202	4296	6498	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240635749G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5138G>T	1.37:g.240635749G>T	ENSP00000318884:p.Gly1713Val					FMN2_uc010pye.1_Missense_Mutation_p.G1717V|FMN2_uc010pyg.1_Missense_Mutation_p.G309V|FMN2_uc001hyr.2_RNA	p.G1713V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		17	5363	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1713					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.5138G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203843	0.79127	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993;ENST00000543681	T;T	0.30182	1.54;1.76	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000017	T	0.47173	0.1431	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	P;D;D	0.91635	0.79;0.999;0.998	T	0.44590	-0.9318	10	0.87932	D	0	.	17.7758	0.88506	0.0:0.0:1.0:0.0	.	309;342;1713	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	V	1713;309;340;189;33	ENSP00000318884:G1713V;ENSP00000437918:G309V	ENSP00000318884:G1713V	G	+	2	0	FMN2	238702372	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.247000	0.72411	2.643000	0.89663	0.655000	0.94253	GGA		0.279	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		27	109	1	0	4.72057e-08	0.003954	8.16531e-08	27	109				
RGS7	6000	broad.mit.edu	37	1	240975303	240975303	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr1:240975303C>A	ENST00000407727.1	-	13	996	c.997G>T	c.(997-999)Ggc>Tgc	p.G333C	RGS7_ENST00000366562.4_Missense_Mutation_p.G333C|RGS7_ENST00000366563.1_Missense_Mutation_p.G333C|RGS7_ENST00000366564.1_Missense_Mutation_p.G333C|RGS7_ENST00000401882.1_Missense_Mutation_p.G280C|RGS7_ENST00000331110.7_Missense_Mutation_p.G307C|RGS7_ENST00000366565.1_Missense_Mutation_p.G333C|RGS7_ENST00000446183.2_Missense_Mutation_p.G249C|RGS7_ENST00000348120.2_Missense_Mutation_p.G280C			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	333	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.G333C(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCGTCCATGCCAAAACCCCAT	0.388																																							uc001hyv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(997-999)GGC>TGC		regulator of G-protein signaling 7							104.0	107.0	106.0					1																	240975303		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240975303C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.997G>T	1.37:g.240975303C>A	ENSP00000384428:p.Gly333Cys					RGS7_uc010pyh.1_Missense_Mutation_p.G307C|RGS7_uc010pyj.1_Missense_Mutation_p.G249C|RGS7_uc001hyu.2_Missense_Mutation_p.G333C|RGS7_uc009xgn.1_Missense_Mutation_p.G280C|RGS7_uc001hyw.2_Missense_Mutation_p.G333C|RGS7_uc001hyt.2_Missense_Mutation_p.G165C	p.G333C	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		14	1327	-		all_cancers(173;0.0131)	333			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.997G>T		.	.	.	.	.	.	.	.	.	.	C	17.46	3.395127	0.62066	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.8	5.8	0.92144	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.048293	0.85682	D	0.000000	T	0.26846	0.0657	L	0.29908	0.895	0.58432	D	0.999998	B;B;B;B;B;B;B	0.26147	0.011;0.059;0.143;0.075;0.143;0.089;0.011	B;B;B;B;B;B;B	0.30316	0.015;0.058;0.05;0.114;0.05;0.034;0.036	T	0.04678	-1.0934	10	0.62326	D	0.03	.	13.9427	0.64066	0.1516:0.8484:0.0:0.0	.	249;307;280;333;333;333;333	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	C	307;333;333;333;164;280;249;333;333;280	ENSP00000331485:G307C;ENSP00000355523:G333C;ENSP00000355522:G333C;ENSP00000355521:G333C;ENSP00000404399:G164C;ENSP00000341242:G280C;ENSP00000390138:G249C;ENSP00000355520:G333C;ENSP00000384428:G333C;ENSP00000385508:G280C	ENSP00000331485:G307C	G	-	1	0	RGS7	239041926	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.224000	0.51238	2.758000	0.94735	0.561000	0.74099	GGC		0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		30	153	1	0	3.73148e-12	0.007291	6.82327e-12	30	153				
GAD2	2572	broad.mit.edu	37	10	26513487	26513488	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:26513487_26513488CC>AA	ENST00000376261.3	+	6	1134_1135	c.631_632CC>AA	c.(631-633)CCa>AAa	p.P211K	GAD2_ENST00000259271.3_Missense_Mutation_p.P211K|GAD2_ENST00000376248.1_Missense_Mutation_p.P97K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	211					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.P211K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGAAATTGCTCCAGTATTTGTG	0.381																																							uc001isp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(631-633)CCA>AAA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26513487_26513488CC>AA	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	Exception_encountered	10.37:g.26513487_26513488delinsAA	ENSP00000365437:p.Pro211Lys					GAD2_uc001isq.2_Missense_Mutation_p.P211K	p.P211K	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			6	1134_1135	+			211					Q9UD87	Missense_Mutation	DNP	ENST00000376261.3	37	c.631_632CC>AA	CCDS7149.1																																																																																				0.381	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		27	65	0	0	0	0.004672	0	27	65				
BTRC	8945	broad.mit.edu	37	10	103310589	103310589	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:103310589C>T	ENST00000370187.3	+	14	1908	c.1790C>T	c.(1789-1791)tCt>tTt	p.S597F	BTRC_ENST00000408038.2_Missense_Mutation_p.S561F|BTRC_ENST00000393441.4_Missense_Mutation_p.S556F|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	597					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S597F(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CGTTCCCCTTCTCGAACATAC	0.453																																							uc001kta.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1789-1791)TCT>TTT		beta-transducin repeat containing protein							128.0	109.0	115.0					10																	103310589		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310589C>T	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1790C>T	10.37:g.103310589C>T	ENSP00000359206:p.Ser597Phe					BTRC_uc001ktb.2_Missense_Mutation_p.S561F|BTRC_uc001ktc.2_Missense_Mutation_p.S571F	p.S597F	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1903	+		Colorectal(252;0.234)	597					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.1790C>T	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117258	0.77323	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.61392	0.25;0.23;0.11	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.71581	2.175	0.80722	D	1	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.22880	0.019;0.042;0.01	T	0.59573	-0.7429	10	0.62326	D	0.03	-13.5472	20.422	0.99049	0.0:1.0:0.0:0.0	.	571;561;597	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	F	597;556;561	ENSP00000359206:S597F;ENSP00000377088:S556F;ENSP00000385339:S561F	ENSP00000359206:S597F	S	+	2	0	BTRC	103300579	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.750000	0.85110	2.832000	0.97577	0.655000	0.94253	TCT		0.453	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		38	71	0	0	0	0.005524	0	38	71				
POLL	27343	broad.mit.edu	37	10	103345714	103345714	+	Silent	SNP	C	C	T	rs369946628		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:103345714C>T	ENST00000370162.3	-	3	809	c.315G>A	c.(313-315)ccG>ccA	p.P105P	POLL_ENST00000456836.2_Intron|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000339310.3_Intron|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000436284.2_Silent_p.P17P|POLL_ENST00000370169.1_Silent_p.P105P|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000299206.4_Silent_p.P105P|POLL_ENST00000370172.1_Silent_p.P17P|DPCD_ENST00000370151.4_5'Flank|POLL_ENST00000370158.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	105	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.P105P(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCTGAGCACCCGGGGGCAGCT	0.602								DNA polymerases (catalytic subunits)																															uc001ktg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CCG>CCA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase lambda							44.0	42.0	43.0					10																	103345714		2203	4300	6503	SO:0001819	synonymous_variant	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345714C>T	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.315G>A	10.37:g.103345714C>T						DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Intron|POLL_uc001kti.1_Silent_p.P105P|POLL_uc001ktj.1_Silent_p.P105P|POLL_uc001ktf.2_Silent_p.P105P|POLL_uc001ktk.1_Intron|POLL_uc010qqa.1_Intron|POLL_uc010qqb.1_Intron|POLL_uc001ktm.2_Silent_p.P105P|POLL_uc001ktl.2_Silent_p.P17P|POLL_uc010qqc.1_5'UTR|POLL_uc010qqd.1_Silent_p.P17P|DPCD_uc001ktn.2_5'Flank	p.P105P	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	2	1081	-		Colorectal(252;0.234)	105			BRCT.		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Silent	SNP	ENST00000370162.3	37	c.315G>A	CCDS7513.1																																																																																				0.602	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		8	44	0	0	0	0.00308	0	8	44				
GFRA1	2674	broad.mit.edu	37	10	117885010	117885010	+	Silent	SNP	G	G	A	rs79176106		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:117885010G>A	ENST00000355422.6	-	6	1042	c.492C>T	c.(490-492)gaC>gaT	p.D164D	GFRA1_ENST00000439649.3_Silent_p.D159D|GFRA1_ENST00000544592.1_Silent_p.D43D|GFRA1_ENST00000369236.1_Silent_p.D159D	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	164					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)	p.D159D(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAAATGTCGTCGAGGTTGC	0.587																																					Ovarian(128;329 1725 45498 46808 50759)	Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(490-492)GAC>GAT		GDNF family receptor alpha 1 isoform a							69.0	59.0	63.0					10																	117885010		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117885010G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.492C>T	10.37:g.117885010G>A						GFRA1_uc001lci.2_Silent_p.D159D|GFRA1_uc009xyr.2_Silent_p.D159D	p.D164D	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1190	-		Lung NSC(174;0.21)	164			2.		A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.492C>T	CCDS44481.1																																																																																				0.587	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		9	40	0	0	0	0.006214	0	9	40				
NUP98	4928	broad.mit.edu	37	11	3797197	3797197	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:3797197G>C	ENST00000324932.7	-	5	830	c.410C>G	c.(409-411)tCt>tGt	p.S137C	NUP98_ENST00000397004.4_Missense_Mutation_p.S137C|NUP98_ENST00000397007.4_Missense_Mutation_p.S137C|NUP98_ENST00000355260.3_Missense_Mutation_p.S137C|NUP98_ENST00000359171.4_Missense_Mutation_p.S137C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	137	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.S137C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAAAGGATTAGAGGTGGTATT	0.378			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																		uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(409-411)TCT>TGT		nucleoporin 98kD isoform 1							151.0	161.0	157.0					11																	3797197		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3797197G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.410C>G	11.37:g.3797197G>C	ENSP00000316032:p.Ser137Cys					NUP98_uc001lyi.2_Missense_Mutation_p.S137C|NUP98_uc001lyj.1_Missense_Mutation_p.S137C|NUP98_uc001lyk.1_Missense_Mutation_p.S137C|NUP98_uc010qxv.1_Missense_Mutation_p.S100C	p.S137C	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	5	701	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	137			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.410C>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699399	0.88830	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.77616	2.38	0.49582	D	0.999801	D;D;D;D;D	0.89917	1.0;0.993;0.992;1.0;1.0	D;P;P;D;D	0.74348	0.962;0.8;0.713;0.983;0.983	T	0.81335	-0.0979	9	0.66056	D	0.02	.	16.0086	0.80380	0.0:0.0:1.0:0.0	.	137;137;137;137;137	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	C	137;137;137;137;137;100	.	ENSP00000316032:S137C	S	-	2	0	NUP98	3753773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.837000	0.92110	2.573000	0.86826	0.655000	0.94253	TCT		0.378	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		93	134	0	0	0	0.01441	0	93	134				
CCDC73	493860	broad.mit.edu	37	11	32676433	32676433	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:32676433A>T	ENST00000335185.5	-	10	774	c.731T>A	c.(730-732)aTt>aAt	p.I244N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	244								p.I244N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTGTTCTTTAATTGTTAGATT	0.259																																							uc001mtv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(730-732)ATT>AAT		sarcoma antigen NY-SAR-79							105.0	87.0	92.0					11																	32676433		1788	4052	5840	SO:0001583	missense	493860							g.chr11:32676433A>T	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.731T>A	11.37:g.32676433A>T	ENSP00000335325:p.Ile244Asn					CCDC73_uc001mtw.1_Missense_Mutation_p.I244N	p.I244N	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			10	775	-	Breast(20;0.112)		244			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.731T>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643448	0.47258	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.94	4.81	0.61882	.	1.073720	0.07495	U	0.906254	T	0.61899	0.2384	L	0.56769	1.78	0.80722	D	1	P;P	0.41188	0.573;0.741	B;P	0.47528	0.256;0.549	T	0.40794	-0.9544	9	0.23891	T	0.37	.	8.4357	0.32786	0.797:0.0:0.203:0.0	.	244;244	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	N	244	.	ENSP00000335325:I244N	I	-	2	0	CCDC73	32633009	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.840000	0.39230	1.063000	0.40649	0.482000	0.46254	ATT		0.259	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		5	23	0	0	0	0.000602	0	5	23				
BBS1	582	broad.mit.edu	37	11	66297387	66297387	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:66297387C>A	ENST00000318312.7	+	14	1488	c.1437C>A	c.(1435-1437)tcC>tcA	p.S479S	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.S382S|BBS1_ENST00000393994.2_Silent_p.S350S|CTD-3074O7.11_ENST00000419755.3_Silent_p.S516S	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	479					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.S479S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCCCCCTGTCCACGACAGCCC	0.677									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	GBM(152;173 2612 9770 10137)	uc001oij.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1435-1437)TCC>TCA		Bardet-Biedl syndrome 1							52.0	36.0	41.0					11																	66297387		2200	4295	6495	SO:0001819	synonymous_variant	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66297387C>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1437C>A	11.37:g.66297387C>A						BBS1_uc001oii.1_Silent_p.S516S|BBS1_uc010rpg.1_Silent_p.S382S|BBS1_uc001oik.1_Silent_p.S403S|BBS1_uc001oil.1_Silent_p.S350S|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Silent_p.S147S	p.S479S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			14	1449	+			479					Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	c.1437C>A	CCDS8142.1																																																																																				0.677	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			6	19	1	0	0.00198382	0.001984	0.00305938	6	19				
TECTA	7007	broad.mit.edu	37	11	121000732	121000732	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:121000732C>T	ENST00000392793.1	+	10	3024	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	TECTA_ENST00000264037.2_Missense_Mutation_p.P918L			O75443	TECTA_HUMAN	tectorin alpha	918	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P918L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATCAACGACCCCTCCAACAGC	0.577																																							uc010rzo.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(2752-2754)CCC>CTC		tectorin alpha precursor							69.0	68.0	68.0					11																	121000732		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000732C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2753C>T	11.37:g.121000732C>T	ENSP00000376543:p.Pro918Leu						p.P918L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2753	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	918			VWFD 2.			Missense_Mutation	SNP	ENST00000392793.1	37	c.2753C>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872045	0.91587	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.78595	-1.19;-1.19	5.78	5.78	0.91487	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86892	0.2049	10	0.39692	T	0.17	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	918	O75443	TECTA_HUMAN	L	918	ENSP00000376543:P918L;ENSP00000264037:P918L	ENSP00000264037:P918L	P	+	2	0	TECTA	120505942	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.463000	0.80869	2.742000	0.94016	0.650000	0.86243	CCC		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		30	50	0	0	0	0.008361	0	30	50				
ST3GAL4	6484	broad.mit.edu	37	11	126276877	126276877	+	Silent	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:126276877C>G	ENST00000526727.1	+	3	515	c.141C>G	c.(139-141)ctC>ctG	p.L47L	ST3GAL4_ENST00000534083.1_Silent_p.L47L|ST3GAL4_ENST00000227495.6_Silent_p.L43L|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000449406.2_Silent_p.L36L|ST3GAL4_ENST00000444328.2_Silent_p.L47L|ST3GAL4_ENST00000392669.2_Silent_p.L47L|ST3GAL4_ENST00000532243.1_Silent_p.L46L|ST3GAL4_ENST00000356132.4_Silent_p.L47L|ST3GAL4_ENST00000530591.1_Silent_p.L43L|ST3GAL4_ENST00000534457.1_Silent_p.L42L			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	47					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)	p.L43L(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGCCGTGCCTCCAGGGTGAGG	0.542																																							uc001qds.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CTC>CTG		ST3 beta-galactoside alpha-2,3-sialyltransferase							80.0	81.0	81.0					11																	126276877		2201	4298	6499	SO:0001819	synonymous_variant	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126276877C>G	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.141C>G	11.37:g.126276877C>G						ST3GAL4_uc001qdt.2_Silent_p.L43L|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Silent_p.L36L|ST3GAL4_uc001qdu.2_Silent_p.L43L|ST3GAL4_uc001qdv.2_Silent_p.L47L|ST3GAL4_uc009zce.2_Silent_p.L43L|ST3GAL4_uc001qdw.2_Silent_p.L36L|ST3GAL4_uc001qdx.1_Silent_p.L36L|ST3GAL4_uc001qdy.2_5'UTR|ST3GAL4_uc001qdz.2_5'Flank	p.L47L	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	4	360	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	47			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	c.141C>G	CCDS58193.1																																																																																				0.542	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		21	88	0	0	0	0.00333	0	21	88				
ANO2	57101	broad.mit.edu	37	12	5848490	5848490	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:5848490T>C	ENST00000356134.5	-	14	1489	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	ANO2_ENST00000327087.8_Missense_Mutation_p.E472G|ANO2_ENST00000546188.1_Missense_Mutation_p.E473G|ANO2_ENST00000538154.1_5'UTR	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	477					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E472G(1)|p.E473G(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CACTTCTTCCTCTTCTATGCC	0.428																																							uc001qnm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1414-1416)GAG>GGG		anoctamin 2							70.0	72.0	72.0					12																	5848490		1923	4126	6049	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5848490T>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1418A>G	12.37:g.5848490T>C	ENSP00000348453:p.Glu473Gly						p.E472G	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			13	1487	-			477			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1415A>G		.	.	.	.	.	.	.	.	.	.	T	23.5	4.422419	0.83559	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.69806	-0.43;-0.43;-0.42;-0.29	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82948	-0.0204	10	0.59425	D	0.04	.	13.5378	0.61655	0.0:0.0:0.0:1.0	.	472	Q9NQ90-3	.	G	472;473;473;477;36	ENSP00000314048:E472G;ENSP00000348453:E473G;ENSP00000440981:E473G;ENSP00000443813:E36G	ENSP00000314048:E472G	E	-	2	0	ANO2	5718751	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.816000	0.86201	1.973000	0.57446	0.459000	0.35465	GAG		0.428	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		9	4	0	0	0	0.004482	0	9	4				
A2ML1	144568	broad.mit.edu	37	12	8998736	8998736	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:8998736T>A	ENST00000299698.7	+	14	1781	c.1601T>A	c.(1600-1602)cTg>cAg	p.L534Q	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.L43Q	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.L534Q(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCCTTCCCTGGTGATCTAT	0.453																																							uc001quz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1600-1602)CTG>CAG		alpha-2-macroglobulin-like 1 precursor							161.0	148.0	152.0					12																	8998736		1920	4134	6054	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8998736T>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1601T>A	12.37:g.8998736T>A	ENSP00000299698:p.Leu534Gln					A2ML1_uc001qva.1_Missense_Mutation_p.L114Q|A2ML1_uc010sgm.1_Missense_Mutation_p.L34Q	p.L534Q	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			14	1699	+			378						Missense_Mutation	SNP	ENST00000299698.7	37	c.1601T>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659468	0.47467	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.12	4.12	0.48240	Alpha-2-macroglobulin, N-terminal 2 (1);	0.165483	0.28072	N	0.016719	T	0.82250	0.4996	M	0.89095	3.005	0.33858	D	0.63345	P	0.51933	0.949	P	0.55222	0.771	D	0.89837	0.4000	10	0.87932	D	0	.	12.9249	0.58254	0.0:0.0:0.0:1.0	.	534	A8K2U0	A2ML1_HUMAN	Q	534;534;84;43;46	ENSP00000299698:L534Q;ENSP00000443174:L84Q;ENSP00000438292:L43Q;ENSP00000440057:L46Q	ENSP00000299698:L534Q	L	+	2	0	A2ML1	8890003	0.651000	0.27340	0.052000	0.19188	0.079000	0.17450	4.890000	0.63178	2.091000	0.63221	0.533000	0.62120	CTG		0.453	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		58	51	0	0	0	0.01441	0	58	51				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		13	7	1	0	2.68362e-12	0.013537	4.97831e-12	13	7				
KRT7	3855	broad.mit.edu	37	12	52627365	52627365	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:52627365C>G	ENST00000331817.5	+	1	468	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	95	Coil 1A.|Interaction with HPV16 E7.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.I95M(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GCGAGCAGATCAAGACCCTCA	0.657																																							uc001saa.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(283-285)ATC>ATG		keratin 7							58.0	60.0	59.0					12																	52627365		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627365C>G		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.285C>G	12.37:g.52627365C>G	ENSP00000329243:p.Ile95Met					KRT7_uc009zmf.1_Missense_Mutation_p.I95M	p.I95M	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	412	+			95			Rod.|Interaction with HPV16 E7.|Coil 1A.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.285C>G	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523049	0.64747	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	D	0.87103	-2.21	4.22	2.36	0.29203	Filament (1);	0.000000	0.36628	N	0.002486	D	0.88980	0.6585	L	0.43757	1.38	0.58432	D	0.999994	D;D	0.71674	0.987;0.998	P;D	0.73380	0.858;0.98	D	0.87659	0.2533	10	0.87932	D	0	.	9.44	0.38661	0.0:0.7762:0.1442:0.0795	.	95;95	F8VZY5;P08729	.;K2C7_HUMAN	M	95;95;71;95	ENSP00000329243:I95M	ENSP00000329243:I95M	I	+	3	3	KRT7	50913632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.138000	0.50570	0.534000	0.28695	0.457000	0.33378	ATC		0.657	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		46	65	0	0	0	0.01441	0	46	65				
RAB5B	5869	broad.mit.edu	37	12	56380777	56380777	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:56380777G>T	ENST00000360299.5	+	2	254	c.33G>T	c.(31-33)ggG>ggT	p.G11G	RAB5B_ENST00000553116.1_Silent_p.G11G|RAB5B_ENST00000448789.2_Silent_p.G11G	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	11					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.G11G(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GGCCCAATGGGCAACCCCAGG	0.532																																							uc001siv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)GGG>GGT		RAB5B, member RAS oncogene family							61.0	58.0	59.0					12																	56380777		2203	4300	6503	SO:0001819	synonymous_variant	5869				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr12:56380777G>T		CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.33G>T	12.37:g.56380777G>T						RAB5B_uc001siw.2_Silent_p.G11G|RAB5B_uc009zog.2_Missense_Mutation_p.G2V|RAB5B_uc010spz.1_Silent_p.G11G	p.G11G	NM_002868	NP_002859	P61020	RAB5B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)		2	150	+			11					A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Silent	SNP	ENST00000360299.5	37	c.33G>T	CCDS8900.1																																																																																				0.532	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405396.1			21	44	1	0	1.50039e-11	0.012319	2.70493e-11	21	44				
RAP1B	5908	broad.mit.edu	37	12	69047944	69047944	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:69047944C>T	ENST00000250559.9	+	5	467	c.236C>T	c.(235-237)gCa>gTa	p.A79V	RAP1B_ENST00000540209.1_Missense_Mutation_p.A60V|RAP1B_ENST00000541216.1_Missense_Mutation_p.A79V|RAP1B_ENST00000450214.2_Missense_Mutation_p.A37V|RAP1B_ENST00000378985.3_Missense_Mutation_p.A13V|RAP1B_ENST00000543393.1_Missense_Mutation_p.A13V|RAP1B_ENST00000543697.1_Missense_Mutation_p.A79V|RAP1B_ENST00000393436.5_Missense_Mutation_p.A79V|RAP1B_ENST00000542145.1_Intron|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000537460.1_Missense_Mutation_p.A79V|RAP1B_ENST00000341355.5_Missense_Mutation_p.A79V|RAP1B_ENST00000539091.1_Missense_Mutation_p.A37V	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	79					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.A79V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CAAGGATTTGCATTAGTTTAT	0.343																																							uc001sub.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)GCA>GTA		SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;							193.0	199.0	197.0					12																	69047944		2203	4299	6502	SO:0001583	missense	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69047944C>T		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.236C>T	12.37:g.69047944C>T	ENSP00000250559:p.Ala79Val					RAP1B_uc010ste.1_Missense_Mutation_p.A13V|RAP1B_uc001suc.2_Missense_Mutation_p.A79V|RAP1B_uc010stf.1_Missense_Mutation_p.A60V|RAP1B_uc010stg.1_Missense_Mutation_p.A37V|RAP1B_uc010sth.1_Missense_Mutation_p.A37V|RAP1B_uc010sti.1_Intron	p.A79V	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	5	399	+	Breast(13;1.24e-05)		79					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	c.236C>T	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316756	0.40996	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000538980;ENST00000542018;ENST00000543393;ENST00000534899;ENST00000453560;ENST00000378985;ENST00000540209;ENST00000540781;ENST00000535492;ENST00000539091;ENST00000456697;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76186	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-1.0;-0.88;-0.88;-1.0;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.11	5.11	0.69529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	N	0.00377	-1.585	0.80722	D	1	B;B;B	0.14805	0.001;0.011;0.011	B;B;B	0.20767	0.009;0.007;0.031	T	0.51942	-0.8641	9	.	.	.	.	19.4343	0.94785	0.0:1.0:0.0:0.0	.	37;60;79	B4DW74;B4DQI8;P61224	.;.;RAP1B_HUMAN	V	79;79;79;79;79;79;79;37;79;28;79;13;79;79;13;60;79;13;37;79;79;79;79	ENSP00000250559:A79V;ENSP00000377085:A79V;ENSP00000401095:A79V;ENSP00000445138:A79V;ENSP00000444786:A79V;ENSP00000441275:A79V;ENSP00000439966:A79V;ENSP00000399986:A37V;ENSP00000437415:A79V;ENSP00000444467:A28V;ENSP00000438088:A79V;ENSP00000445090:A13V;ENSP00000441952:A79V;ENSP00000444060:A79V;ENSP00000368270:A13V;ENSP00000446318:A60V;ENSP00000440466:A79V;ENSP00000443775:A13V;ENSP00000444830:A37V;ENSP00000440708:A79V;ENSP00000438311:A79V;ENSP00000443851:A79V	.	A	+	2	0	RAP1B	67334211	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	7.487000	0.81328	2.765000	0.95021	0.557000	0.71058	GCA		0.343	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		9	363	0	0	0	0.008291	0	9	363				
PAWR	5074	broad.mit.edu	37	12	80014945	80014945	+	Missense_Mutation	SNP	G	G	A	rs147882965		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:80014945G>A	ENST00000328827.4	-	3	931	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	187	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)	p.R187W(1)		NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTCGTTTCCGCTCTTTCTGC	0.363																																							uc001syx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)CGG>TGG		PRKC, apoptosis, WT1, regulator		G	TRP/ARG	0,4406		0,0,2203	310.0	241.0	265.0		559	2.4	1.0	12	dbSNP_134	265	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PAWR	NM_002583.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	187/341	80014945	2,13004	2203	4300	6503	SO:0001583	missense	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:80014945G>A	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.559C>T	12.37:g.80014945G>A	ENSP00000328088:p.Arg187Trp						p.R187W	NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN			3	845	-			187			Selective for apoptosis induction in cancer cells (SAC).|Potential.		O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	c.559C>T	CCDS31863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.95|19.95	3.921663|3.921663	0.73213|0.73213	0.0|0.0	2.33E-4|2.33E-4	ENSG00000177425|ENSG00000177425	ENST00000551712|ENST00000328827	.|T	.|0.18810	.|2.19	5.52|5.52	2.43|2.43	0.29744|0.29744	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37892|0.37892	0.1020|0.1020	L|L	0.50333|0.50333	1.59|1.59	0.48452|0.48452	D|D	0.999657|0.999657	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.07195|0.07195	-1.0785|-1.0785	5|9	.|.	.|.	.|.	-8.0781|-8.0781	13.8857|13.8857	0.63706|0.63706	0.0:0.0:0.5088:0.4912|0.0:0.0:0.5088:0.4912	.|.	.|187	.|Q96IZ0	.|PAWR_HUMAN	V|W	132|187	.|ENSP00000328088:R187W	.|.	A|R	-|-	2|1	0|2	PAWR|PAWR	78539076|78539076	0.675000|0.675000	0.27558|0.27558	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.526000|0.526000	0.22971|0.22971	0.752000|0.752000	0.32923|0.32923	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.363	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583		30	228	0	0	0	0.013726	0	30	228				
CLIP1	6249	broad.mit.edu	37	12	122862287	122862287	+	Silent	SNP	C	C	A	rs115820623	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:122862287C>A	ENST00000540338.1	-	2	347	c.306G>T	c.(304-306)tcG>tcT	p.S102S	CLIP1_ENST00000361654.4_Silent_p.S102S|CLIP1_ENST00000302528.7_Silent_p.S102S|CLIP1_ENST00000358808.2_Silent_p.S102S|CLIP1_ENST00000537178.1_Silent_p.S102S			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	102	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.S102S(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCCTGCCACCGAACCATCGT	0.453																																							uc001ucg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(304-306)TCG>TCT		restin isoform a							109.0	104.0	106.0					12																	122862287		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862287C>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.306G>T	12.37:g.122862287C>A						CLIP1_uc001uch.1_Silent_p.S102S|CLIP1_uc001uci.1_Silent_p.S102S|CLIP1_uc010tae.1_Silent_p.S102S	p.S102S	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	2	412	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		102			CAP-Gly 1.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.306G>T	CCDS58285.1																																																																																				0.453	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		59	180	1	0	1.53716e-24	0.01441	3.17348e-24	59	180				
EP400	57634	broad.mit.edu	37	12	132504687	132504687	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr12:132504687G>T	ENST00000333577.4	+	23	4588	c.4479G>T	c.(4477-4479)acG>acT	p.T1493T	EP400_ENST00000332482.4_Silent_p.T1420T|EP400_ENST00000389562.2_Silent_p.T1456T|EP400_ENST00000389561.2_Silent_p.T1457T|EP400_ENST00000330386.6_Silent_p.T1457T			Q96L91	EP400_HUMAN	E1A binding protein p400	1493					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T1456T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACCACGGCCTCTGCTG	0.642																																							uc001ujn.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4369-4371)ACG>ACT		E1A binding protein p400							41.0	45.0	44.0					12																	132504687		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132504687G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4479G>T	12.37:g.132504687G>T						EP400_uc001ujl.2_Silent_p.T1456T|EP400_uc001ujm.2_Silent_p.T1457T	p.T1457T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	21	4406	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1493					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4371G>T																																																																																					0.642	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		49	78	1	0	1.35964e-18	0.01441	2.67744e-18	49	78				
FLT3	2322	broad.mit.edu	37	13	28602366	28602366	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr13:28602366G>A	ENST00000241453.7	-	16	2083	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L	FLT3_ENST00000380982.4_Silent_p.L668L|FLT3_ENST00000537084.1_Silent_p.L668L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L668L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCTTCCCAGCTGGGTCATC	0.443			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2002-2004)CTG>TTG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						98.0	80.0	87.0					13																	28602366		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28602366G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2002C>T	13.37:g.28602366G>A						FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L668L	p.L668L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	16	2084	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	668			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2002C>T	CCDS31953.1																																																																																				0.443	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			43	21	0	0	0	0.013114	0	43	21				
MYO16	23026	broad.mit.edu	37	13	109777613	109777613	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr13:109777613C>T	ENST00000357550.2	+	29	3664	c.3623C>T	c.(3622-3624)gCc>gTc	p.A1208V	MYO16_ENST00000457511.2_Missense_Mutation_p.A720V|MYO16_ENST00000356711.2_Missense_Mutation_p.A1208V	NM_001198950.1	NP_001185879.1			myosin XVI									p.A1208V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCAGACATTGCCCGGGAAAAT	0.473																																							uc001vqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3622-3624)GCC>GTC		myosin heavy chain Myr 8							65.0	61.0	62.0					13																	109777613		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777613C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3623C>T	13.37:g.109777613C>T	ENSP00000350160:p.Ala1208Val					MYO16_uc010agk.1_Missense_Mutation_p.A1230V|MYO16_uc010tjh.1_Missense_Mutation_p.A720V	p.A1208V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3749	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1208						Missense_Mutation	SNP	ENST00000357550.2	37	c.3623C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341036	0.95783	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.51325	0.71;0.71;0.71	5.75	5.75	0.90469	.	0.000000	0.40385	U	0.001118	T	0.69486	0.3116	M	0.75264	2.295	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.941	T	0.68530	-0.5384	9	.	.	.	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	720;1208	F8W883;Q9Y6X6	.;MYO16_HUMAN	V	1208;1208;720	ENSP00000349145:A1208V;ENSP00000350160:A1208V;ENSP00000401633:A720V	.	A	+	2	0	MYO16	108575614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.828000	0.75308	2.716000	0.92895	0.655000	0.94253	GCC		0.473	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		3	24	0	0	0	0.004672	0	3	24				
OR4Q3	441669	broad.mit.edu	37	14	20215612	20215612	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:20215612T>A	ENST00000331723.1	+	1	26	c.26T>A	c.(25-27)gTg>gAg	p.V9E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTCTAATGTGACAGAATTT	0.338																																							uc010tkt.1		NA																	0				breast(3)	3						c.(25-27)GTG>GAG		olfactory receptor, family 4, subfamily Q,							120.0	121.0	120.0					14																	20215612		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215612T>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.26T>A	14.37:g.20215612T>A	ENSP00000330049:p.Val9Glu						p.V9E	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	26	+	all_cancers(95;0.00108)		9			Extracellular (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.26T>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	9.698	1.153690	0.21371	.	.	ENSG00000182652	ENST00000331723	T	0.00912	5.55	4.32	3.18	0.36537	.	0.000000	0.36134	U	0.002763	T	0.05181	0.0138	M	0.90019	3.08	0.09310	N	1	D	0.55172	0.97	D	0.63033	0.91	T	0.08126	-1.0737	10	0.87932	D	0	.	7.6962	0.28596	0.0:0.1029:0.0:0.8971	.	9	Q8NH05	OR4Q3_HUMAN	E	9	ENSP00000330049:V9E	ENSP00000330049:V9E	V	+	2	0	OR4Q3	19285452	0.226000	0.23696	0.058000	0.19502	0.610000	0.37248	1.870000	0.39529	0.712000	0.32039	0.416000	0.27883	GTG		0.338	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			57	210	0	0	0	0.01441	0	57	210				
OR4M1	441670	broad.mit.edu	37	14	20248599	20248600	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:20248599_20248600CC>AA	ENST00000315957.4	+	1	199_200	c.118_119CC>AA	c.(118-120)CCa>AAa	p.P40K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTCATCCTACCAGGAAATATC	0.431																																							uc010tku.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CCA>AAA		olfactory receptor, family 4, subfamily M,																																				SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248599_20248600CC>AA		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	Exception_encountered	14.37:g.20248599_20248600delinsAA	ENSP00000319654:p.Pro40Lys						p.P40K	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	118_119	+	all_cancers(95;0.00108)		40			Helical; Name=1; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	DNP	ENST00000315957.4	37	c.118_119CC>AA	CCDS32021.1																																																																																				0.431	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			126	667	0	0	0	0.004672	0	126	667				
PCK2	5106	broad.mit.edu	37	14	24566321	24566321	+	Nonsense_Mutation	SNP	C	C	T	rs202159394		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:24566321C>T	ENST00000216780.4	+	2	518	c.250C>T	c.(250-252)Cga>Tga	p.R84*	PCK2_ENST00000396973.4_Nonsense_Mutation_p.R84*|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Nonsense_Mutation_p.R96*|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	84					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.R84*(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGGCCTCATCCGAAAGCTCCC	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21501	0.0		0.0	False		,,,				2504	0.0						uc001wlt.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(250-252)CGA>TGA		mitochondrial phosphoenolpyruvate carboxykinase							69.0	67.0	68.0					14																	24566321		2203	4300	6503	SO:0001587	stop_gained	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566321C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.250C>T	14.37:g.24566321C>T	ENSP00000216780:p.Arg84*					NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Nonsense_Mutation_p.R96*|PCK2_uc001wls.2_Nonsense_Mutation_p.R84*|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	p.R84*	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	382	+			84					O43253|Q86U01|Q9BV62	Nonsense_Mutation	SNP	ENST00000216780.4	37	c.250C>T	CCDS9609.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	37	5.978832	0.97168	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	.	.	.	5.52	4.62	0.57501	.	0.199092	0.43747	D	0.000528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-4.2763	11.6228	0.51128	0.3231:0.6769:0.0:0.0	.	.	.	.	X	84	.	ENSP00000216780:R84X	R	+	1	2	PCK2	23636161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.425000	0.52771	1.434000	0.47414	0.650000	0.86243	CGA		0.552	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	101	0	0	0	0.001168	0	5	101				
TBPL2	387332	broad.mit.edu	37	14	55903438	55903438	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr14:55903438C>A	ENST00000247219.5	-	2	519	c.449G>T	c.(448-450)aGt>aTt	p.S150I		NM_199047.2	NP_950248.1			TATA box binding protein like 2									p.S150I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						ATTTGACAAACTGCTGCTGTT	0.493																																							uc001xby.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(448-450)AGT>ATT		TATA box binding protein like 2							229.0	193.0	205.0					14																	55903438		2203	4300	6503	SO:0001583	missense	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903438C>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.449G>T	14.37:g.55903438C>A	ENSP00000247219:p.Ser150Ile						p.S150I	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN			2	449	-			150						Missense_Mutation	SNP	ENST00000247219.5	37	c.449G>T	CCDS9724.1	.	.	.	.	.	.	.	.	.	.	C	4.250	0.045309	0.08196	.	.	ENSG00000182521	ENST00000247219	T	0.48836	0.8	4.92	1.01	0.19927	.	1.378690	0.03881	N	0.277094	T	0.44767	0.1309	L	0.59436	1.845	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.33727	-0.9857	10	0.66056	D	0.02	-0.003	5.1709	0.15110	0.0:0.4854:0.2828:0.2318	.	150	Q6SJ96	TBPL2_HUMAN	I	150	ENSP00000247219:S150I	ENSP00000247219:S150I	S	-	2	0	TBPL2	54973191	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.801000	0.04550	0.013000	0.14918	0.655000	0.94253	AGT		0.493	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		25	88	1	0	2.21704e-12	0.00278	4.14278e-12	25	88				
TGM5	9333	broad.mit.edu	37	15	43552356	43552356	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr15:43552356C>T	ENST00000220420.5	-	3	337	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	110					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A110A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GACCCACGGCCGCCGTGGGAG	0.617																																							uc001zrd.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(328-330)GCG>GCA		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						55.0	64.0	61.0					15																	43552356		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552356C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.330G>A	15.37:g.43552356C>T						TGM5_uc001zre.1_Intron	p.A110A	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	3	338	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	110					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.330G>A	CCDS32212.1																																																																																				0.617	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		19	61	0	0	0	0.012319	0	19	61				
CKMT1B	1159	broad.mit.edu	37	15	43890472	43890472	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr15:43890472C>G	ENST00000441322.1	+	7	1318	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	CKMT1B_ENST00000300283.6_Missense_Mutation_p.L320V			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	320	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.L320V(1)		large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TCCATCTAACCTGGGCACTGG	0.512																																							uc001zsc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(958-960)CTG>GTG		creatine kinase, mitochondrial 1B precursor	Creatine(DB00148)						117.0	122.0	120.0					15																	43890472		2151	4278	6429	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43890472C>G	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.958C>G	15.37:g.43890472C>G	ENSP00000413255:p.Leu320Val					CKMT1B_uc010uds.1_Missense_Mutation_p.L351V|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc001zsd.3_Missense_Mutation_p.L320V|CKMT1B_uc010bdj.2_RNA|CKMT1B_uc010udy.1_RNA	p.L320V	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	8	1350	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	320			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.958C>G	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267901	0.59540	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.14640	2.49;2.49	4.43	3.51	0.40186	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	M	0.87456	2.885	0.80722	D	1	P;P	0.49253	0.903;0.921	P;P	0.60609	0.607;0.877	T	0.19224	-1.0312	10	0.87932	D	0	-2.0694	9.6708	0.40011	0.0:0.8363:0.0:0.1636	.	351;320	P12532-2;P12532	.;KCRU_HUMAN	V	320	ENSP00000300283:L320V;ENSP00000413255:L320V	ENSP00000300283:L320V	L	+	1	2	CKMT1B	41677764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.925000	0.56484	2.450000	0.82876	0.491000	0.48974	CTG		0.512	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		4	114	0	0	0	0.001168	0	4	114				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																							uc010bky.2		NA																	0					0						c.(217-219)CAA>CAG		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78211548T>C																													15.37:g.78211548T>C							p.Q73Q	NR_027024						11	983	-									Silent	SNP	ENST00000565869.1	37	c.219A>G																																																																																					0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	213	0	0	0	0.001168	0	5	213				
CACNA1H	8912	broad.mit.edu	37	16	1250433	1250433	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:1250433C>T	ENST00000348261.5	+	7	1229	c.981C>T	c.(979-981)gcC>gcT	p.A327A	CACNA1H_ENST00000565831.1_Silent_p.A327A|CACNA1H_ENST00000358590.4_Silent_p.A327A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	327					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.A327A(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCCGCAGGCCGAGGGGGTGG	0.672																																							uc002cks.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)	2						c.(979-981)GCC>GCT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						24.0	28.0	27.0					16																	1250433		2061	4172	6233	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250433C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.981C>T	16.37:g.1250433C>T						CACNA1H_uc002ckt.2_Silent_p.A327A	p.A327A	NM_021098	NP_066921	O95180	CAC1H_HUMAN			7	1229	+		Hepatocellular(780;0.00369)	327			Extracellular (Potential).|I.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.981C>T	CCDS45375.1																																																																																				0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	24	0	0	0	0.004482	0	8	24				
XYLT1	64131	broad.mit.edu	37	16	17202764	17202764	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:17202764G>T	ENST00000261381.6	-	12	2752	c.2668C>A	c.(2668-2670)Cag>Aag	p.Q890K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	890					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.Q890K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCGTGCCTGTTCCACCTGG	0.647																																							uc002dfa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2668-2670)CAG>AAG		xylosyltransferase I							89.0	85.0	86.0					16																	17202764		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17202764G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2668C>A	16.37:g.17202764G>T	ENSP00000261381:p.Gln890Lys						p.Q890K	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			12	2753	-			890			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2668C>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501901	0.44455	.	.	ENSG00000103489	ENST00000261381	T	0.04317	3.65	5.81	4.84	0.62591	.	0.155417	0.64402	D	0.000016	T	0.06826	0.0174	L	0.60455	1.87	0.42957	D	0.994391	P	0.35745	0.518	B	0.30316	0.114	T	0.22521	-1.0214	10	0.41790	T	0.15	-27.5669	14.4425	0.67327	0.0:0.28:0.7199:0.0	.	890	Q86Y38	XYLT1_HUMAN	K	890	ENSP00000261381:Q890K	ENSP00000261381:Q890K	Q	-	1	0	XYLT1	17110265	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.388000	0.52509	1.437000	0.47472	0.655000	0.94253	CAG		0.647	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		37	47	1	0	6.86731e-36	0.006999	1.52872e-35	37	47				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																							uc010vbl.1		NA																	0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	30	0	0	0	0.004672	0	3	30				
USP31	57478	broad.mit.edu	37	16	23160107	23160107	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:23160107C>A	ENST00000219689.7	-	1	484	c.485G>T	c.(484-486)cGg>cTg	p.R162L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	115	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R162L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCGCCCCGCCCGGTACTGGCC	0.731																																							uc002dll.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(484-486)CGG>CTG		ubiquitin specific peptidase 31							7.0	8.0	8.0					16																	23160107		2139	4194	6333	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23160107C>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.485G>T	16.37:g.23160107C>A	ENSP00000219689:p.Arg162Leu						p.R162L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	1	485	-			162					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.485G>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193246	0.78902	.	.	ENSG00000103404	ENST00000219689	T	0.30981	1.51	3.0	3.0	0.34707	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.469020	0.04383	N	0.361237	T	0.32882	0.0844	N	0.16743	0.435	0.80722	D	1	D	0.63046	0.992	P	0.56216	0.794	T	0.34875	-0.9811	10	0.21540	T	0.41	.	9.6175	0.39701	0.0:1.0:0.0:0.0	.	162	Q70CQ4	UBP31_HUMAN	L	162	ENSP00000219689:R162L	ENSP00000219689:R162L	R	-	2	0	USP31	23067608	0.994000	0.37717	0.931000	0.37212	0.916000	0.54674	1.507000	0.35758	1.685000	0.51034	0.411000	0.27672	CGG		0.731	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		4	15	1	0	0.000602214	0.000602	0.000940042	4	15				
NAE1	8883	broad.mit.edu	37	16	66842900	66842900	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:66842900T>A	ENST00000290810.3	-	16	1326	c.1229A>T	c.(1228-1230)gAt>gTt	p.D410V	NAE1_ENST00000379463.2_Missense_Mutation_p.D404V|NAE1_ENST00000359087.4_Missense_Mutation_p.D413V|NAE1_ENST00000394074.2_Missense_Mutation_p.D321V			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	410					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.D410V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ACTAATTTCATCCTTGTTAAT	0.303																																							uc002eqf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1228-1230)GAT>GTT		NEDD8 activating enzyme E1 subunit 1 isoform a	Adenosine triphosphate(DB00171)						86.0	81.0	83.0					16																	66842900		2200	4299	6499	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842900T>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1229A>T	16.37:g.66842900T>A	ENSP00000290810:p.Asp410Val					NAE1_uc002eqe.2_Missense_Mutation_p.D404V|NAE1_uc002eqg.2_Missense_Mutation_p.D321V|NAE1_uc010cdv.2_Missense_Mutation_p.D413V	p.D410V	NM_003905	NP_003896	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	16	1306	-		Ovarian(137;0.0563)	410					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1229A>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372742	0.42003	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.14	5.14	0.70334	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.38321	0.1036	M	0.68952	2.095	0.80722	D	1	B;P;B	0.38565	0.0;0.637;0.014	B;B;B	0.29077	0.001;0.098;0.008	T	0.32508	-0.9904	10	0.32370	T	0.25	-7.3094	14.6507	0.68794	0.0:0.0:0.0:1.0	.	413;410;404	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	V	413;410;404;321	ENSP00000351990:D413V;ENSP00000290810:D410V;ENSP00000368776:D404V;ENSP00000377637:D321V	ENSP00000290810:D410V	D	-	2	0	NAE1	65400401	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.602000	0.82796	1.938000	0.56188	0.528000	0.53228	GAT		0.303	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		10	39	0	0	0	0.010729	0	10	39				
DUS2	54920	broad.mit.edu	37	16	68104848	68104848	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:68104848G>T	ENST00000565263.1	+	12	1141	c.647G>T	c.(646-648)gGa>gTa	p.G216V	DUS2_ENST00000432752.1_Missense_Mutation_p.G181V|DUS2_ENST00000358896.6_Missense_Mutation_p.G216V	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	216					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.G216V(1)									TTTAGCGGAGGATCTCATGAC	0.512																																							uc002evi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(646-648)GGA>GTA		dihydrouridine synthase 2-like, SMM1 homolog							77.0	71.0	73.0					16																	68104848		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68104848G>T		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.647G>T	16.37:g.68104848G>T	ENSP00000455229:p.Gly216Val					DUS2L_uc002evj.2_Missense_Mutation_p.G216V|DUS2L_uc010vkk.1_Missense_Mutation_p.G181V|DUS2L_uc010cez.2_Missense_Mutation_p.G129V	p.G216V	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	12	796	+		Ovarian(137;0.192)	216					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.647G>T	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655595	0.88056	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.35973	1.28;1.28	5.43	5.43	0.79202	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.985	T	0.74881	-0.3513	10	0.87932	D	0	-30.1535	17.3968	0.87448	0.0:0.0:1.0:0.0	.	181;216	E7EUN9;Q9NX74	.;DUS2L_HUMAN	V	216;181	ENSP00000351769:G216V;ENSP00000409498:G181V	ENSP00000351769:G216V	G	+	2	0	DUS2L	66662349	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.352000	0.97076	2.716000	0.92895	0.561000	0.74099	GGA		0.512	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		4	65	1	0	0.00024832	0.009096	0.00039	4	65				
PDPR	55066	broad.mit.edu	37	16	70164389	70164389	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:70164389G>C	ENST00000288050.4	+	7	1628	c.671G>C	c.(670-672)gGa>gCa	p.G224A	PDPR_ENST00000568530.1_Missense_Mutation_p.G224A|PDPR_ENST00000398122.3_Missense_Mutation_p.G124A	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	224					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.G224A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CAAGTTACTGGAGTGGAGACC	0.428																																							uc002eyf.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(670-672)GGA>GCA		pyruvate dehydrogenase phosphatase regulatory							143.0	147.0	146.0					16																	70164389		1919	4142	6061	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70164389G>C		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.671G>C	16.37:g.70164389G>C	ENSP00000288050:p.Gly224Ala					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.G124A|PDPR_uc002eyg.1_5'Flank	p.G224A	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	7	1628	+			224					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.671G>C	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192191	0.58017	.	.	ENSG00000090857	ENST00000288050;ENST00000398122	D;D	0.89415	-2.51;-2.51	4.93	4.93	0.64822	FAD dependent oxidoreductase (1);	0.055474	0.64402	D	0.000001	D	0.83436	0.5254	L	0.28054	0.825	0.80722	D	1	B	0.27316	0.175	B	0.35727	0.209	T	0.78071	-0.2347	10	0.07482	T	0.82	.	17.1212	0.86701	0.0:0.0:1.0:0.0	.	224	Q8NCN5	PDPR_HUMAN	A	224;124	ENSP00000288050:G224A;ENSP00000381190:G124A	ENSP00000288050:G224A	G	+	2	0	PDPR	68721890	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	3.341000	0.52151	2.274000	0.75844	0.557000	0.71058	GGA		0.428	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		15	72	0	0	0	0.00245	0	15	72				
CALB2	794	broad.mit.edu	37	16	71406079	71406079	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:71406079G>C	ENST00000302628.4	+	2	195	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	CALB2_ENST00000349553.5_Missense_Mutation_p.E40Q	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E40Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TGAAGGTAAAGAGCTAGAAAA	0.478																																							uc002faa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GAG>CAG		calbindin 2 isoform 1							89.0	97.0	94.0					16																	71406079		2198	4300	6498	SO:0001583	missense	794						calcium ion binding	g.chr16:71406079G>C	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.118G>C	16.37:g.71406079G>C	ENSP00000307508:p.Glu40Gln					CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.E40Q	p.E40Q	NM_001740	NP_001731	P22676	CALB2_HUMAN			2	188	+		Ovarian(137;0.125)	40			1 (Probable).|EF-hand 1.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.118G>C	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729105	0.89390	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.79940	-1.32;-1.32	5.79	5.79	0.91817	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94079	0.8102	H	0.97874	4.095	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95823	0.8851	10	0.87932	D	0	-29.1487	18.7988	0.92007	0.0:0.0:1.0:0.0	.	40;40	A6NER6;P22676	.;CALB2_HUMAN	Q	40	ENSP00000340294:E40Q;ENSP00000307508:E40Q	ENSP00000307508:E40Q	E	+	1	0	CALB2	69963580	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.001000	0.88508	2.707000	0.92482	0.655000	0.94253	GAG		0.478	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		25	123	0	0	0	0.003954	0	25	123				
ZFHX3	463	broad.mit.edu	37	16	72830437	72830437	+	Silent	SNP	T	T	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:72830437T>G	ENST00000268489.5	-	9	6816	c.6144A>C	c.(6142-6144)ccA>ccC	p.P2048P	ZFHX3_ENST00000397992.5_Silent_p.P1134P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2048	Poly-Pro.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTGGGGGTGGAGGGGGTG	0.642																																							uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(6142-6144)CCA>CCC		zinc finger homeobox 3 isoform A							19.0	28.0	25.0					16																	72830437		2129	4145	6274	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830437T>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6144A>C	16.37:g.72830437T>G						ZFHX3_uc002fcl.2_Silent_p.P1134P	p.P2048P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	6817	-		Ovarian(137;0.13)	2048			Poly-Pro.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6144A>C	CCDS10908.1																																																																																				0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	86	0	0	0	0.00278	0	10	86				
ZMYND15	84225	broad.mit.edu	37	17	4648623	4648623	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:4648623C>T	ENST00000433935.1	+	13	2067	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P	ZMYND15_ENST00000573751.2_Silent_p.P678P|ZMYND15_ENST00000592813.1_Silent_p.P631P|ZMYND15_ENST00000269289.6_Silent_p.P631P	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	670					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P670P(1)|p.P631P(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						AGCCCAACCCCTTCCGCTCCC	0.612																																							uc002fyt.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1891-1893)CCC>CCT		zinc finger, MYND-type containing 15 isoform 2							60.0	62.0	61.0					17																	4648623		2203	4300	6503	SO:0001819	synonymous_variant	84225						zinc ion binding	g.chr17:4648623C>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.2010C>T	17.37:g.4648623C>T						ZMYND15_uc002fyv.2_Silent_p.P670P|ZMYND15_uc002fyu.2_Silent_p.P678P	p.P631P	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN			12	1932	+			631					B4DXY5|I3L296	Silent	SNP	ENST00000433935.1	37	c.1893C>T	CCDS45584.1																																																																																				0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		25	62	0	0	0	0.005443	0	25	62				
KCNJ12	3768	broad.mit.edu	37	17	21318895	21318895	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:21318895C>G	ENST00000583088.1	+	3	1136	c.241C>G	c.(241-243)Cgg>Ggg	p.R81G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R81G	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	81					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R81G(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATCCGCTGGCGGTACATGCT	0.577										Prostate(3;0.18)																													uc002gyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(241-243)CGG>GGG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						205.0	126.0	153.0					17																	21318895		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318895C>G	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.241C>G	17.37:g.21318895C>G	ENSP00000463778:p.Arg81Gly	Prostate(3;0.18)					p.R81G	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	946	+			81			Helical; Name=M1; (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.241C>G	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550529	0.65311	.	.	ENSG00000184185	ENST00000331718	D	0.95885	-3.84	5.33	4.31	0.51392	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	H	0.95043	3.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98223	1.0479	10	0.87932	D	0	.	10.7711	0.46323	0.4271:0.5729:0.0:0.0	.	81	Q14500	IRK12_HUMAN	G	81	ENSP00000328150:R81G	ENSP00000328150:R81G	R	+	1	2	KCNJ12	21259488	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.669000	0.46825	2.506000	0.84524	0.591000	0.81541	CGG		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		6	44	0	0	0	0.00308	0	6	44				
KCNJ12	3768	broad.mit.edu	37	17	21319622	21319622	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:21319622G>T	ENST00000583088.1	+	3	1863	c.968G>T	c.(967-969)tGg>tTg	p.W323L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.W323L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	323					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.W323L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGATCCTGTGGGGTCACCGC	0.587										Prostate(3;0.18)																													uc002gyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(967-969)TGG>TTG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						136.0	137.0	137.0					17																	21319622		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319622G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.968G>T	17.37:g.21319622G>T	ENSP00000463778:p.Trp323Leu	Prostate(3;0.18)					p.W323L	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1673	+			323			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.968G>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466514	0.84425	.	.	ENSG00000184185	ENST00000331718	D	0.97480	-4.4	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99548	1.0965	10	0.87932	D	0	.	19.6736	0.95921	0.0:0.0:1.0:0.0	.	323	Q14500	IRK12_HUMAN	L	323	ENSP00000328150:W323L	ENSP00000328150:W323L	W	+	2	0	KCNJ12	21260215	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.698000	0.98700	2.664000	0.90586	0.561000	0.74099	TGG		0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		15	196	1	0	1.49906e-05	0.00245	2.41358e-05	15	196				
KRT23	25984	broad.mit.edu	37	17	39092709	39092709	+	Silent	SNP	C	C	T	rs201367421		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:39092709C>T	ENST00000209718.3	-	2	571	c.147G>A	c.(145-147)acG>acA	p.T49T	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	49	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGCAGCTCCGCGTGGTGAAGG	0.687																																							uc002hvm.1		NA																	2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(1)	1						c.(145-147)ACG>ACA		keratin 23		C		1,4405	2.1+/-5.4	0,1,2202	44.0	50.0	48.0		147	-4.3	0.0	17		48	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	KRT23	NM_015515.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		49/423	39092709	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25984					intermediate filament	structural molecule activity	g.chr17:39092709C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.147G>A	17.37:g.39092709C>T						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.T49T|KRT23_uc002hvn.1_Silent_p.T49T	p.T49T	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	736	-		Breast(137;0.000301)|Ovarian(249;0.15)	49			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	c.147G>A	CCDS11380.1																																																																																				0.687	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			24	73	0	0	0	0.00333	0	24	73				
CHAD	1101	broad.mit.edu	37	17	48545931	48545931	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:48545931G>T	ENST00000508540.1	-	1	396	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.L82M|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	82					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.L82M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGTGCTGCAGGTGCAATGAC	0.602																																							uc010dbr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(244-246)CTG>ATG		chondroadherin precursor							87.0	74.0	78.0					17																	48545931		2203	4300	6503	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545931G>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.244C>A	17.37:g.48545931G>T	ENSP00000423812:p.Leu82Met					ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.L82M|ACSF2_uc010dbt.1_Intron	p.L82M	NM_001267	NP_001258	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	297	-	Breast(11;1.93e-18)		82			LRR 1.		A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.244C>A	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102035	0.37048	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.17213	2.29;2.29	4.31	4.31	0.51392	.	0.118381	0.56097	D	0.000033	T	0.25195	0.0612	M	0.84948	2.725	0.44660	D	0.997648	B	0.27791	0.189	B	0.24974	0.057	T	0.09378	-1.0677	10	0.52906	T	0.07	.	12.1416	0.54000	0.0:0.0:0.8288:0.1712	.	82	O15335	CHAD_HUMAN	M	82	ENSP00000423812:L82M;ENSP00000258969:L82M	ENSP00000258969:L82M	L	-	1	2	CHAD	45900930	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	3.593000	0.54001	2.232000	0.73038	0.462000	0.41574	CTG		0.602	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		18	55	1	0	1.45105e-14	0.006122	2.77216e-14	18	55				
ENTHD2	146705	broad.mit.edu	37	17	79202754	79202754	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr17:79202754A>G	ENST00000300714.3	-	12	1609	c.1552T>C	c.(1552-1554)Tca>Cca	p.S518P	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.S434P	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	518						cytoplasmic vesicle (GO:0031410)		p.S518P(1)									GCGAAAGCTGACGGCTCTGAG	0.647																																							uc002jzu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1552-1554)TCA>CCA		hypothetical protein LOC146705							35.0	37.0	36.0					17																	79202754		2203	4300	6503	SO:0001583	missense	146705					integral to membrane		g.chr17:79202754A>G	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1552T>C	17.37:g.79202754A>G	ENSP00000300714:p.Ser518Pro					C17orf56_uc002jzr.1_Missense_Mutation_p.S188P|C17orf56_uc002jzs.1_Missense_Mutation_p.S434P|C17orf56_uc002jzt.1_Missense_Mutation_p.S434P|C17orf56_uc002jzv.1_Missense_Mutation_p.S366P|uc002jzw.1_RNA	p.S518P	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		12	1574	-	all_neural(118;0.0804)|Melanoma(429;0.242)		518					Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.1552T>C	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898094	0.52227	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.75154	-0.91;-0.91	4.21	4.21	0.49690	.	0.000000	0.50627	D	0.000106	D	0.82843	0.5125	M	0.61703	1.905	0.47698	D	0.999492	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.84522	0.0628	10	0.87932	D	0	-13.6417	11.6551	0.51313	1.0:0.0:0.0:0.0	.	518;434	Q96N21;Q96N21-2	CQ056_HUMAN;.	P	518;434	ENSP00000300714:S518P;ENSP00000363901:S434P	ENSP00000300714:S518P	S	-	1	0	C17orf56	76817349	0.983000	0.35010	0.450000	0.26969	0.122000	0.20287	5.156000	0.64905	1.769000	0.52152	0.443000	0.29094	TCA		0.647	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		9	33	0	0	0	0.006214	0	9	33				
PTPRM	5797	broad.mit.edu	37	18	8376062	8376062	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:8376062C>G	ENST00000332175.8	+	23	4188	c.3151C>G	c.(3151-3153)Cga>Gga	p.R1051G	PTPRM_ENST00000400053.4_Missense_Mutation_p.R989G|PTPRM_ENST00000444013.1_Missense_Mutation_p.R838G|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1064G|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1065G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1051	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1051G(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCATGAAATCCGAGAGATCAG	0.532																																							uc002knn.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3151-3153)CGA>GGA		protein tyrosine phosphatase, receptor type, M							93.0	92.0	92.0					18																	8376062		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8376062C>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3151C>G	18.37:g.8376062C>G	ENSP00000331418:p.Arg1051Gly					PTPRM_uc010dkv.2_Missense_Mutation_p.R1064G|PTPRM_uc010wzl.1_Missense_Mutation_p.R838G	p.R1051G	NM_002845	NP_002836	P28827	PTPRM_HUMAN			23	3654	+		Colorectal(10;0.234)	1051			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3151C>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612210	0.87258	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	6.04	6.04	0.98038	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.062075	0.64402	D	0.000003	T	0.73313	0.3571	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.79633	-0.1722	10	0.87932	D	0	.	20.6524	0.99598	0.0:1.0:0.0:0.0	.	838;1064;1051	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	G	1051;1065;989;838	ENSP00000331418:R1051G;ENSP00000382933:R1065G;ENSP00000382927:R989G;ENSP00000387608:R838G	ENSP00000331418:R1051G	R	+	1	2	PTPRM	8366062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.682000	0.61671	2.890000	0.99128	0.585000	0.79938	CGA		0.532	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			66	101	0	0	0	0.01441	0	66	101				
KLHL14	57565	broad.mit.edu	37	18	30349722	30349722	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:30349722A>T	ENST00000359358.4	-	2	1271	c.833T>A	c.(832-834)gTc>gAc	p.V278D	AC012123.1_ENST00000426194.1_5'Flank|KLHL14_ENST00000358095.4_Missense_Mutation_p.V278D	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	278	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.V278D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACTGACTGGACCCGCTCCAC	0.647																																							uc002kxm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(832-834)GTC>GAC		kelch-like 14							41.0	45.0	44.0					18																	30349722		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349722A>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.833T>A	18.37:g.30349722A>T	ENSP00000352314:p.Val278Asp						p.V278D	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	1221	-			278			BACK.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.833T>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827744	0.71143	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.73789	-0.78;-0.78	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	M	0.82517	2.595	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.88509	0.3088	10	0.87932	D	0	.	13.7198	0.62720	1.0:0.0:0.0:0.0	.	278	Q9P2G3	KLH14_HUMAN	D	278	ENSP00000352314:V278D;ENSP00000350808:V278D	ENSP00000350808:V278D	V	-	2	0	KLHL14	28603720	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.049000	0.93837	1.850000	0.53721	0.374000	0.22700	GTC		0.647	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			43	45	0	0	0	0.01441	0	43	45				
ALPK2	115701	broad.mit.edu	37	18	56203629	56203629	+	Missense_Mutation	SNP	C	C	A	rs144733035	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr18:56203629C>A	ENST00000361673.3	-	5	4003	c.3790G>T	c.(3790-3792)Ggt>Tgt	p.G1264C	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1264						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1264C(1)|p.G625C(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGAGACCACCGTCTGATGCC	0.498																																							uc002lhj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(3790-3792)GGT>TGT		heart alpha-kinase							147.0	132.0	137.0					18																	56203629		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203629C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3790G>T	18.37:g.56203629C>A	ENSP00000354991:p.Gly1264Cys					ALPK2_uc002lhk.1_Missense_Mutation_p.G595C	p.G1264C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			5	4004	-			1264					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3790G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403020	0.42613	.	.	ENSG00000198796	ENST00000361673	T	0.45276	0.9	5.44	1.51	0.23008	.	2.238030	0.01293	N	0.010092	T	0.50205	0.1602	L	0.40543	1.245	0.09310	N	1	D;D	0.64830	0.989;0.994	P;P	0.58970	0.849;0.675	T	0.21895	-1.0232	10	0.72032	D	0.01	-1.0578	3.9776	0.09481	0.1589:0.4495:0.3076:0.084	.	1259;1264	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	C	1264	ENSP00000354991:G1264C	ENSP00000354991:G1264C	G	-	1	0	ALPK2	54354609	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.056000	0.11787	0.330000	0.23485	-0.314000	0.08810	GGT		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		48	123	1	0	4.00472e-15	0.01441	7.70833e-15	48	123				
ELAVL1	1994	broad.mit.edu	37	19	8028583	8028583	+	Silent	SNP	G	G	A	rs141885519	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:8028583G>A	ENST00000407627.2	-	6	894	c.765C>T	c.(763-765)gcC>gcT	p.A255A	ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000351593.5_Silent_p.A282A|ELAVL1_ENST00000596459.1_Silent_p.A255A	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.A255A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCCTCGTCGGCATCCTGCC	0.577													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17822	0.0		0.002	False		,,,				2504	0.0						uc002mjb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)GCC>GCT		ELAV-like 1		G		0,4406		0,0,2203	88.0	75.0	79.0		765	-0.6	1.0	19	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ELAVL1	NM_001419.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		255/327	8028583	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8028583G>A	U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.765C>T	19.37:g.8028583G>A							p.A255A	NM_001419	NP_001410	Q15717	ELAV1_HUMAN			6	932	-			255			RRM 3.		B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.765C>T	CCDS12193.1																																																																																				0.577	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		4	79	0	0	0	0.009096	0	4	79				
MUC16	94025	broad.mit.edu	37	19	9068783	9068783	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:9068783G>T	ENST00000397910.4	-	3	18866	c.18663C>A	c.(18661-18663)ctC>ctA	p.L6221L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6223	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L6221L(2)|p.L1854L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGAAGAGAGAGAGTTGG	0.453																																							uc002mkp.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18661-18663)CTC>CTA		mucin 16							128.0	128.0	128.0					19																	9068783		2071	4195	6266	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068783G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18663C>A	19.37:g.9068783G>T							p.L6221L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18867	-			6223			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.18663C>A	CCDS54212.1																																																																																				0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	47	1	0	8.48111e-28	0.01441	1.79435e-27	49	47				
KEAP1	9817	broad.mit.edu	37	19	10602329	10602329	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:10602329C>T	ENST00000171111.5	-	3	1796	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.G417R|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.G417R(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACCCCCACCCCGATGCGGTTA	0.667																																							uc002moq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1249-1251)GGG>AGG		kelch-like ECH-associated protein 1							31.0	27.0	28.0					19																	10602329		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602329C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1249G>A	19.37:g.10602329C>T	ENSP00000171111:p.Gly417Arg					KEAP1_uc002mop.1_Missense_Mutation_p.G135R|KEAP1_uc002mor.1_Missense_Mutation_p.G417R	p.G417R	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1405	-			417			Kelch 2.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1249G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849227	0.91277	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.82711	-1.64;-1.64	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92904	0.6342	10	0.87932	D	0	.	17.1192	0.86697	0.0:1.0:0.0:0.0	.	417	Q14145	KEAP1_HUMAN	R	417	ENSP00000171111:G417R;ENSP00000377245:G417R	ENSP00000171111:G417R	G	-	1	0	KEAP1	10463329	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	5.913000	0.69957	2.662000	0.90505	0.655000	0.94253	GGG		0.667	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		7	6	0	0	0	0.001984	0	7	6				
ZNF653	115950	broad.mit.edu	37	19	11598552	11598552	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:11598552C>A	ENST00000293771.5	-	4	862	c.726G>T	c.(724-726)gtG>gtT	p.V242V	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V242V(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGGGAATGTGCACGCCCTCCT	0.682																																					Pancreas(83;980 1446 4542 6441 43352)	Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)GTG>GTT		zinc finger protein 653							52.0	47.0	48.0					19																	11598552		2203	4300	6503	SO:0001819	synonymous_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11598552C>A	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.726G>T	19.37:g.11598552C>A							p.V242V	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			4	779	-			242					Q96AS7	Silent	SNP	ENST00000293771.5	37	c.726G>T	CCDS12261.1																																																																																				0.682	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		16	42	1	0	6.94344e-10	0.006122	1.21748e-09	16	42				
TTC32	130502	broad.mit.edu	37	2	20096878	20096878	+	Missense_Mutation	SNP	T	T	A	rs149286415		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:20096878T>A	ENST00000333610.3	-	3	457	c.326A>T	c.(325-327)gAt>gTt	p.D109V	TTC32_ENST00000402414.1_Nonstop_Mutation_p.*53C	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	109								p.D109V(1)		kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGCATCATCAAAATATCC	0.318																																							uc002rdg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAT>GTT		tetratricopeptide repeat domain 32		T	VAL/ASP	0,4400		0,0,2200	46.0	47.0	47.0		326	5.6	1.0	2	dbSNP_134	47	1,8587	1.2+/-3.3	0,1,4293	no	missense	TTC32	NM_001008237.1	152	0,1,6493	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging	109/152	20096878	1,12987	2200	4294	6494	SO:0001583	missense	130502						identical protein binding	g.chr2:20096878T>A	BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"""Tetratricopeptide (TTC) repeat domain containing"""	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.326A>T	2.37:g.20096878T>A	ENSP00000333018:p.Asp109Val						p.D109V	NM_001008237	NP_001008238	Q5I0X7	TTC32_HUMAN			3	458	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		109			TPR 3.			Missense_Mutation	SNP	ENST00000333610.3	37	c.326A>T	CCDS33151.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.79|19.79	3.893512|3.893512	0.72639|0.72639	0.0|0.0	1.16E-4|1.16E-4	ENSG00000183891|ENSG00000183891	ENST00000333610|ENST00000402414	T|.	0.76186|.	-1.0|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.165528|.	0.52532|.	D|.	0.000071|.	T|.	0.72120|.	0.3421|.	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72338|.	0.977|.	T|.	0.71721|.	-0.4507|.	10|.	0.66056|.	D|.	0.02|.	-6.3503|-6.3503	14.6573|14.6573	0.68844|0.68844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	109|.	Q5I0X7|.	TTC32_HUMAN|.	V|C	109|53	ENSP00000333018:D109V|.	ENSP00000333018:D109V|.	D|X	-|-	2|3	0|0	TTC32|TTC32	19960359|19960359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.205000|7.205000	0.77881|0.77881	2.141000|2.141000	0.66446|0.66446	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.318	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323868.1	NM_001008237		18	45	0	0	0	0.007413	0	18	45				
APLF	200558	broad.mit.edu	37	2	68772346	68772346	+	Silent	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:68772346T>C	ENST00000303795.4	+	8	1359	c.1188T>C	c.(1186-1188)ttT>ttC	p.F396F	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	396					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F396F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TTCAACATTTTAGCCATCCTG	0.403																																							uc002sep.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1186-1188)TTT>TTC		aprataxin and PNKP like factor							140.0	132.0	134.0					2																	68772346		2203	4300	6503	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68772346T>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1188T>C	2.37:g.68772346T>C						APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Silent_p.F372F|APLF_uc002ser.1_Silent_p.F127F	p.F396F	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			8	1361	+			396			PBZ-type 1.		A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.1188T>C	CCDS1888.1																																																																																				0.403	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		28	82	0	0	0	0.00632	0	28	82				
MOGS	7841	broad.mit.edu	37	2	74690042	74690042	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:74690042C>G	ENST00000233616.4	-	4	1036	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P	MOGS_ENST00000452063.2_Missense_Mutation_p.A186P|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	292					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)	p.A292P(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TCAGGGGGGGCCCCTGGGGGC	0.587																																							uc010ffj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(874-876)GCC>CCC		mannosyl-oligosaccharide glucosidase isoform 1							112.0	120.0	117.0					2																	74690042		1957	4148	6105	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690042C>G	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.874G>C	2.37:g.74690042C>G	ENSP00000233616:p.Ala292Pro					MOGS_uc010ffh.2_Missense_Mutation_p.A17P|MOGS_uc010yrt.1_Missense_Mutation_p.A173P|MOGS_uc010ffi.2_Missense_Mutation_p.A186P|MOGS_uc010yru.1_3'UTR	p.A292P	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	1037	-			292			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.874G>C	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324836	0.41197	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.38560	1.13;1.13;1.13	4.85	3.96	0.45880	.	0.114428	0.64402	D	0.000019	T	0.32376	0.0827	N	0.22421	0.69	0.80722	D	1	P	0.47484	0.896	P	0.45377	0.478	T	0.03957	-1.0989	10	0.30854	T	0.27	-5.1296	12.0054	0.53257	0.1855:0.8145:0.0:0.0	.	292	Q13724	MOGS_HUMAN	P	292;186;186	ENSP00000233616:A292P;ENSP00000388201:A186P;ENSP00000410992:A186P	ENSP00000233616:A292P	A	-	1	0	MOGS	74543550	0.567000	0.26626	0.896000	0.35187	0.480000	0.33159	1.012000	0.29924	1.226000	0.43582	0.655000	0.94253	GCC		0.587	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		5	232	0	0	0	0.000602	0	5	232				
ST6GAL2	84620	broad.mit.edu	37	2	107459840	107459840	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:107459840G>T	ENST00000409382.3	-	2	1204	c.594C>A	c.(592-594)tcC>tcA	p.S198S	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.S198S|ST6GAL2_ENST00000361686.4_Silent_p.S198S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	198					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.S198S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCTGGACATGGAGGAGTACA	0.617																																							uc002tdq.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(592-594)TCC>TCA		ST6 beta-galactosamide							79.0	77.0	78.0					2																	107459840		2203	4300	6503	SO:0001819	synonymous_variant	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459840G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.594C>A	2.37:g.107459840G>T						ST6GAL2_uc002tdr.2_Silent_p.S198S|ST6GAL2_uc002tds.3_Silent_p.S198S	p.S198S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	713	-			198			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	ENST00000409382.3	37	c.594C>A	CCDS2073.1																																																																																				0.617	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		22	70	1	0	2.89027e-11	0.014323	5.13825e-11	22	70				
LRP1B	53353	broad.mit.edu	37	2	141707940	141707940	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:141707940C>A	ENST00000389484.3	-	20	3971	c.3000G>T	c.(2998-3000)gtG>gtT	p.V1000V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1000	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V1000V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAACACAGCCCACCTCATCAC	0.463										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2998-3000)GTG>GTT		low density lipoprotein-related protein 1B							119.0	83.0	95.0					2																	141707940		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141707940C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3000G>T	2.37:g.141707940C>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.V182V	p.V1000V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	20	3972	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1000			Extracellular (Potential).|LDL-receptor class A 6.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3000G>T	CCDS2182.1																																																																																				0.463	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	49	1	0	6.40141e-05	0.010729	0.000102423	11	49				
CCDC150	284992	broad.mit.edu	37	2	197565880	197565880	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:197565880G>T	ENST00000389175.4	+	15	1806	c.1671G>T	c.(1669-1671)ctG>ctT	p.L557L	CCDC150_ENST00000272831.7_Silent_p.L225L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	557								p.L557L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAATAAACTGGCCTATGAAA	0.318																																							uc002utp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1669-1671)CTG>CTT		coiled-coil domain containing 150							65.0	57.0	59.0					2																	197565880		1806	4060	5866	SO:0001819	synonymous_variant	284992							g.chr2:197565880G>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1671G>T	2.37:g.197565880G>T						CCDC150_uc010zgs.1_Silent_p.L225L|CCDC150_uc010zgt.1_Silent_p.L31L	p.L557L	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			15	1806	+			557			Potential.		Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.1671G>T	CCDS46478.1																																																																																				0.318	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		11	22	1	0	1.08611e-07	0.010729	1.86606e-07	11	22				
HDAC4	9759	broad.mit.edu	37	2	240098157	240098157	+	Missense_Mutation	SNP	G	G	C	rs140596122		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:240098157G>C	ENST00000345617.3	-	5	1233	c.442C>G	c.(442-444)Cgg>Ggg	p.R148G	HDAC4_ENST00000541256.1_Missense_Mutation_p.R117G	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	148	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R148G(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ttctgctcccggtgctgcttc	0.627																																							uc002vyk.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(442-444)CGG>GGG		histone deacetylase 4							195.0	166.0	176.0					2																	240098157		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240098157G>C	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.442C>G	2.37:g.240098157G>C	ENSP00000264606:p.Arg148Gly					HDAC4_uc010fyz.1_Missense_Mutation_p.R143G|HDAC4_uc010zoa.1_Missense_Mutation_p.R143G|HDAC4_uc010fza.2_Missense_Mutation_p.R148G|HDAC4_uc010fyy.2_Missense_Mutation_p.R100G|HDAC4_uc010znz.1_Missense_Mutation_p.R31G	p.R148G	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	5	1234	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	148			Interaction with MEF2A.|Potential.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.442C>G	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.039004	0.35989	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542;ENST00000446876	D;D;T;T	0.84298	-1.83;-1.83;0.72;0.67	2.74	2.74	0.32292	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000001	T	0.79441	0.4446	L	0.53249	1.67	0.80722	D	1	B;B;B;B;B;B	0.23128	0.08;0.01;0.008;0.001;0.002;0.002	B;B;B;B;B;B	0.26969	0.075;0.01;0.01;0.011;0.011;0.011	T	0.73777	-0.3876	9	.	.	.	.	9.1379	0.36886	0.0:0.0:1.0:0.0	.	143;31;117;117;116;148	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	G	148;31;117;31;117;121	ENSP00000264606:R148G;ENSP00000443057:R117G;ENSP00000405226:R117G;ENSP00000392912:R121G	.	R	-	1	2	HDAC4	239763094	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.286000	0.33273	1.845000	0.53610	0.491000	0.48974	CGG		0.627	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		6	236	0	0	0	0.00308	0	6	236				
SEL1L2	80343	broad.mit.edu	37	20	13830946	13830946	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr20:13830946C>T	ENST00000284951.5	-	19	1912	c.1838G>A	c.(1837-1839)aGa>aAa	p.R613K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.R500K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	613						integral component of membrane (GO:0016021)		p.R613K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTCGTACAATCTTCTGGCCAA	0.458																																							uc010gcf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1837-1839)AGA>AAA		sel-1 suppressor of lin-12-like 2 precursor							99.0	97.0	97.0					20																	13830946		1971	4164	6135	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830946C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1838G>A	20.37:g.13830946C>T	ENSP00000284951:p.Arg613Lys					SEL1L2_uc002woq.3_Missense_Mutation_p.R474K|SEL1L2_uc010zrl.1_Missense_Mutation_p.R500K|SEL1L2_uc002wor.2_RNA	p.R613K	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			19	1920	-			613			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1838G>A		.	.	.	.	.	.	.	.	.	.	C	17.55	3.416974	0.62511	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51574	0.8;0.7	5.97	5.03	0.67393	Tetratricopeptide-like helical (1);	0.083668	0.51477	D	0.000083	T	0.33118	0.0852	L	0.28014	0.82	0.42940	D	0.994341	B;B	0.31459	0.324;0.046	B;B	0.26310	0.036;0.068	T	0.14504	-1.0470	10	0.41790	T	0.15	-21.2027	12.2085	0.54365	0.0:0.9188:0.0:0.0812	.	500;613	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	K	500;613	ENSP00000367312:R500K;ENSP00000284951:R613K	ENSP00000284951:R613K	R	-	2	0	SEL1L2	13778946	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.718000	0.47236	2.828000	0.97474	0.655000	0.94253	AGA		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		16	49	0	0	0	0.00499	0	16	49				
ZMYND8	23613	broad.mit.edu	37	20	45920590	45920590	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr20:45920590C>A	ENST00000311275.7	-	6	803	c.550G>T	c.(550-552)Gac>Tac	p.D184Y	ZMYND8_ENST00000540497.1_Missense_Mutation_p.D179Y|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D179Y|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D184Y|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D204Y|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D121Y|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D179Y|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D179Y|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D184Y|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D184Y|ZMYND8_ENST00000536340.1_Missense_Mutation_p.D211Y|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D204Y|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D204Y	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	184	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.D204Y(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCGCATAGTCAGGGTGCTGT	0.458																																							uc002xta.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(550-552)GAC>TAC		zinc finger, MYND-type containing 8 isoform b							116.0	99.0	105.0					20																	45920590		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45920590C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.550G>T	20.37:g.45920590C>A	ENSP00000312237:p.Asp184Tyr					ZMYND8_uc010ghr.1_Missense_Mutation_p.D159Y|ZMYND8_uc002xst.1_Missense_Mutation_p.D159Y|ZMYND8_uc002xsu.1_Missense_Mutation_p.D184Y|ZMYND8_uc002xsv.1_Missense_Mutation_p.D159Y|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.D159Y|ZMYND8_uc002xsz.1_Missense_Mutation_p.D121Y|ZMYND8_uc010zxy.1_Missense_Mutation_p.D211Y|ZMYND8_uc002xtb.1_Missense_Mutation_p.D204Y|ZMYND8_uc002xss.2_Missense_Mutation_p.D184Y|ZMYND8_uc010zxz.1_Missense_Mutation_p.D179Y|ZMYND8_uc002xtc.1_Missense_Mutation_p.D204Y|ZMYND8_uc002xtd.1_Missense_Mutation_p.D179Y|ZMYND8_uc002xte.1_Missense_Mutation_p.D184Y|ZMYND8_uc010zya.1_Missense_Mutation_p.D184Y|ZMYND8_uc002xtf.1_Missense_Mutation_p.D204Y|ZMYND8_uc002xtg.2_Missense_Mutation_p.D178Y|ZMYND8_uc010ghs.1_Missense_Mutation_p.D178Y	p.D184Y	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		6	804	-			184			Bromo.		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.550G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.140457|5.140457	0.94560|0.94560	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Bromodomain (5);|.	0.097447|.	0.64402|.	D|.	0.000001|.	D|.	0.84848|.	0.5563|.	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.998;1.0;1.0;1.0;0.988;1.0;0.998;0.988;1.0;1.0;1.0;1.0;0.998;1.0;0.999;0.999|.	D;D;D;D;D;P;D;D;P;D;D;D;D;D;D;D;D|.	0.91635|.	0.979;0.964;0.997;0.998;0.998;0.879;0.996;0.964;0.879;0.996;0.997;0.998;0.998;0.979;0.999;0.979;0.979|.	D|.	0.86844|.	0.2019|.	10|.	0.72032|.	D|.	0.01|.	-9.3675|-9.3675	19.4584|19.4584	0.94904|0.94904	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	179;211;179;179;178;204;184;179;204;204;184;121;179;179;204;179;184|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	Y|L	179;184;179;184;204;204;184;211;184;121;204;179;179;159|110	ENSP00000354166:D179Y;ENSP00000312237:D184Y;ENSP00000392964:D179Y;ENSP00000262975:D184Y;ENSP00000420095:D204Y;ENSP00000335537:D204Y;ENSP00000379577:D184Y;ENSP00000439800:D211Y;ENSP00000348246:D184Y;ENSP00000396725:D121Y;ENSP00000418210:D204Y;ENSP00000361093:D179Y;ENSP00000443086:D179Y;ENSP00000413727:D159Y|.	ENSP00000262975:D184Y|.	D|X	-|-	1|2	0|2	ZMYND8|ZMYND8	45353997|45353997	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.994000|0.994000	0.84299|0.84299	7.814000|7.814000	0.86154|0.86154	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.458	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		38	29	1	0	6.2361e-21	0.007835	1.23755e-20	38	29				
APP	351	broad.mit.edu	37	21	27284177	27284177	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr21:27284177T>A	ENST00000346798.3	-	14	1818	c.1785A>T	c.(1783-1785)ccA>ccT	p.P595P	APP_ENST00000359726.3_Silent_p.P539P|APP_ENST00000448388.2_Silent_p.P485P|APP_ENST00000357903.3_Silent_p.P576P|APP_ENST00000440126.3_Silent_p.P571P|APP_ENST00000439274.2_Silent_p.P539P|APP_ENST00000348990.5_Silent_p.P520P|APP_ENST00000358918.3_Silent_p.P595P|APP_ENST00000354192.3_Silent_p.P464P	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	595					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.P595P(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGGTCAAAGATGGCATGAGAG	0.493																																							uc002ylz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1783-1785)CCA>CCT		amyloid beta A4 protein isoform a precursor							193.0	140.0	158.0					21																	27284177		2203	4300	6503	SO:0001819	synonymous_variant	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27284177T>A	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1785A>T	21.37:g.27284177T>A						APP_uc011acg.1_Silent_p.P103P|APP_uc010glk.2_Silent_p.P571P|APP_uc002yma.2_Silent_p.P576P|APP_uc011ach.1_Silent_p.P539P|APP_uc002ymb.2_Silent_p.P520P|APP_uc010glj.2_Silent_p.P464P|APP_uc011aci.1_Silent_p.P485P	p.P595P	NM_000484	NP_000475	P05067	A4_HUMAN			14	1985	-		Breast(209;0.00295)	595			Extracellular (Potential).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	c.1785A>T	CCDS13576.1																																																																																				0.493	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		4	43	0	0	0	0.001168	0	4	43				
ADAMTS1	9510	broad.mit.edu	37	21	28210756	28210756	+	Splice_Site	SNP	A	A	G	rs113268450		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr21:28210756A>G	ENST00000284984.3	-	8	2659		c.e8+1			NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1						heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTAAAACTTACTTTGCACTA	0.328																																							uc002ymf.2		NA																	1	Unknown(1)		lung(1)	lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.e8+1		ADAM metallopeptidase with thrombospondin type 1							103.0	102.0	102.0					21																	28210756		2203	4300	6503	SO:0001630	splice_region_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210756A>G	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2204+1T>C	21.37:g.28210756A>G							p.K735_splice	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	8	2659	-		Breast(209;0.000962)						D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Splice_Site	SNP	ENST00000284984.3	37	c.2204_splice	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078304	0.76528	.	.	ENSG00000154734	ENST00000284984	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.827	0.78718	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS1	27132627	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.824000	0.75288	2.324000	0.78689	0.533000	0.62120	.		0.328	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		Intron	41	21	0	0	0	0.007835	0	41	21				
ZNF280B	140883	broad.mit.edu	37	22	22843165	22843165	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr22:22843165T>C	ENST00000406426.1	-	4	1301	c.559A>G	c.(559-561)Agg>Ggg	p.R187G	ZNF280B_ENST00000360412.2_Missense_Mutation_p.R187G			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R187G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTTTAGCCCTTTTGGGATTT	0.388																																							uc002zwc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(559-561)AGG>GGG		zinc finger protein 280B							102.0	103.0	103.0					22																	22843165		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843165T>C	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.559A>G	22.37:g.22843165T>C	ENSP00000385998:p.Arg187Gly					LOC96610_uc011aim.1_Intron	p.R187G	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1335	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	187						Missense_Mutation	SNP	ENST00000406426.1	37	c.559A>G	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612860	0.28712	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.23348	1.91;1.91	4.32	4.32	0.51571	.	.	.	.	.	T	0.28234	0.0697	M	0.68952	2.095	0.30209	N	0.797865	P	0.38582	0.638	B	0.37047	0.24	T	0.30707	-0.9969	9	0.59425	D	0.04	-3.9532	10.0613	0.42277	0.0:0.0:0.0:1.0	.	187	Q86YH2	Z280B_HUMAN	G	187	ENSP00000385998:R187G;ENSP00000353586:R187G	ENSP00000353586:R187G	R	-	1	2	ZNF280B	21173165	1.000000	0.71417	0.974000	0.42286	0.330000	0.28571	2.729000	0.47327	1.943000	0.56356	0.533000	0.62120	AGG		0.388	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		3	140	0	0	0	0.004672	0	3	140				
GRM7	2917	broad.mit.edu	37	3	7620336	7620336	+	Silent	SNP	C	C	A	rs375970414		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:7620336C>A	ENST00000357716.4	+	8	2017	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	GRM7_ENST00000486284.1_Silent_p.I581I|GRM7_ENST00000402647.2_Silent_p.I581I|GRM7_ENST00000403881.1_Silent_p.I581I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.I581I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	581					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.I581I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ATATTCCCATCATCAAACTGG	0.517																																							uc003bqm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)	7						c.(1741-1743)ATC>ATA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						113.0	115.0	115.0					3																	7620336		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620336C>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1743C>A	3.37:g.7620336C>A						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.I581I|GRM7_uc003bql.2_Silent_p.I581I|GRM7_uc003bqn.1_Silent_p.I164I|GRM7_uc010hch.1_Silent_p.I92I	p.I581I	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2017	+			581			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.1743C>A	CCDS43042.1																																																																																				0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		85	92	1	0	7.14593e-30	0.01441	1.52446e-29	85	92				
LRTM1	57408	broad.mit.edu	37	3	54952687	54952687	+	Silent	SNP	C	C	A	rs150198745		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:54952687C>A	ENST00000273286.5	-	3	999	c.837G>T	c.(835-837)ccG>ccT	p.P279P	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Silent_p.P203P|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	279						integral component of membrane (GO:0016021)		p.P279P(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCAGGTTGGCCGGCCTTGGCT	0.602																																							uc003dhl.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(835-837)CCG>CCT		leucine-rich repeats and transmembrane domains 1							160.0	115.0	130.0					3																	54952687		2203	4300	6503	SO:0001819	synonymous_variant	57408					integral to membrane		g.chr3:54952687C>A	AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.837G>T	3.37:g.54952687C>A						CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	p.P279P	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)	3	971	-			279			Extracellular (Potential).		Q8IUU2	Silent	SNP	ENST00000273286.5	37	c.837G>T	CCDS2876.1																																																																																				0.602	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678		27	48	1	0	1.42536e-11	0.004656	2.58788e-11	27	48				
FAM208A	23272	broad.mit.edu	37	3	56695042	56695042	+	Silent	SNP	A	A	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:56695042A>G	ENST00000493960.2	-	10	1174	c.1164T>C	c.(1162-1164)ccT>ccC	p.P388P	FAM208A_ENST00000355628.5_Silent_p.P388P|FAM208A_ENST00000431842.2_5'UTR	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	388							poly(A) RNA binding (GO:0044822)	p.P388P(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTAATTTCTCAGGTCTGAAAG	0.313																																							uc003did.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1162-1164)CCT>CCC		retinoblastoma-associated protein 140 isoform b							70.0	69.0	69.0					3																	56695042		2202	4294	6496	SO:0001819	synonymous_variant	23272							g.chr3:56695042A>G	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1164T>C	3.37:g.56695042A>G						C3orf63_uc003dic.3_5'UTR|C3orf63_uc003die.3_Silent_p.P388P	p.P388P	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	10	1265	-			388					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Silent	SNP	ENST00000493960.2	37	c.1164T>C	CCDS46853.1																																																																																				0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		3	64	0	0	0	0.009096	0	3	64				
IFT57	55081	broad.mit.edu	37	3	107885748	107885748	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:107885748C>G	ENST00000264538.3	-	8	1181	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	312					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.E312Q(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ACCAAATTCTCAAGCTGATTG	0.378																																							uc003dwx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(934-936)GAG>CAG		estrogen-related receptor beta like 1							150.0	140.0	144.0					3																	107885748		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107885748C>G	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.934G>C	3.37:g.107885748C>G	ENSP00000264538:p.Glu312Gln						p.E312Q	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		8	1182	-			312			Potential.		Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.934G>C	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396115	0.83011	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78541	0.4299	M	0.65320	2	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.77051	-0.2731	9	0.49607	T	0.09	.	20.0216	0.97506	0.0:1.0:0.0:0.0	.	312	Q9NWB7	IFT57_HUMAN	Q	312	.	ENSP00000264538:E312Q	E	-	1	0	IFT57	109368438	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.951000	0.75983	2.735000	0.93741	0.650000	0.86243	GAG		0.378	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		9	47	0	0	0	0.004482	0	9	47				
ADCY5	111	broad.mit.edu	37	3	123016213	123016213	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:123016213C>T	ENST00000462833.1	-	16	4129	c.2917G>A	c.(2917-2919)Ggg>Agg	p.G973R	ADCY5_ENST00000491190.1_Missense_Mutation_p.G606R|ADCY5_ENST00000309879.5_Missense_Mutation_p.G623R	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	973					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.G973R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGGGAGGTCCCGTTGTTGAAG	0.637																																							uc003egh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2917-2919)GGG>AGG		adenylate cyclase 5							222.0	194.0	204.0					3																	123016213		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123016213C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2917G>A	3.37:g.123016213C>T	ENSP00000419361:p.Gly973Arg					ADCY5_uc003egg.1_Missense_Mutation_p.G606R	p.G973R	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	16	2917	-			973					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2917G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870925	0.51695	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;D	0.81579	-1.1;-1.4;-1.51	4.43	4.43	0.53597	.	0.859234	0.10059	N	0.721144	T	0.81856	0.4911	N	0.22421	0.69	0.47949	D	0.999555	B;D	0.89917	0.018;1.0	B;D	0.83275	0.012;0.996	T	0.72211	-0.4359	10	0.15952	T	0.53	.	12.4241	0.55536	0.0:1.0:0.0:0.0	.	973;606	O95622;B3KWA8	ADCY5_HUMAN;.	R	973;606;623	ENSP00000419361:G973R;ENSP00000418537:G606R;ENSP00000308685:G623R	ENSP00000308685:G623R	G	-	1	0	ADCY5	124498903	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.574000	0.53863	2.301000	0.77427	0.650000	0.86243	GGG		0.637	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		50	167	0	0	0	0.01441	0	50	167				
KALRN	8997	broad.mit.edu	37	3	123987958	123987958	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:123987958C>T	ENST00000240874.3	+	5	976	c.819C>T	c.(817-819)gaC>gaT	p.D273D	KALRN_ENST00000360013.3_Silent_p.D273D|KALRN_ENST00000460856.1_Silent_p.D273D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	273					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D273D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAGTGCTGACTTCCAGAGCC	0.652																																							uc003ehg.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(817-819)GAC>GAT		kalirin, RhoGEF kinase isoform 1							22.0	22.0	22.0					3																	123987958		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123987958C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.819C>T	3.37:g.123987958C>T						KALRN_uc010hrv.1_Silent_p.D273D|KALRN_uc003ehf.1_Silent_p.D273D|KALRN_uc011bjy.1_Silent_p.D273D	p.D273D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			5	946	+			273			Spectrin 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.819C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	9.117	1.008135	0.19199	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.56601	0.1996	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55088	-0.8195	4	.	.	.	.	6.3757	0.21505	0.0:0.7922:0.0:0.2078	.	.	.	.	I	251	.	.	T	+	2	0	KALRN	125470648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.629000	0.37071	2.760000	0.94817	0.655000	0.94253	ACT		0.652	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		18	11	0	0	0	0.00499	0	18	11				
CHST13	166012	broad.mit.edu	37	3	126260868	126260869	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:126260868_126260869CC>AA	ENST00000319340.2	+	3	523_524	c.473_474CC>AA	c.(472-474)gCC>gAA	p.A158E		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	158					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.A158E(1)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TTCAGCCCCGCCGAGATCAACC	0.733																																							uc003eja.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(472-474)GCC>GAA		carbohydrate sulfotransferase 13																																				SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260868_126260869CC>AA	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	Exception_encountered	3.37:g.126260868_126260869delinsAA	ENSP00000317404:p.Ala158Glu						p.A158E	NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	473_474	+			158			Lumenal (Potential).		Q3SYA3|Q3SYA5	Missense_Mutation	DNP	ENST00000319340.2	37	c.473_474CC>AA	CCDS3039.1																																																																																				0.733	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		4	22	0	0	0	0.004672	0	4	22				
ABCC5	10057	broad.mit.edu	37	3	183683279	183683279	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:183683279A>G	ENST00000334444.6	-	13	2084	c.1844T>C	c.(1843-1845)cTa>cCa	p.L615P	ABCC5_ENST00000265586.6_Missense_Mutation_p.L615P	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L615P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GCTGCCCTCTAGAAGCGTCAT	0.507																																							uc003fmg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1843-1845)CTA>CCA		ATP-binding cassette, sub-family C, member 5							101.0	99.0	99.0					3																	183683279		2001	4173	6174	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183683279A>G	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1844T>C	3.37:g.183683279A>G	ENSP00000333926:p.Leu615Pro					ABCC5_uc011bqt.1_Missense_Mutation_p.L143P|ABCC5_uc010hxl.2_Missense_Mutation_p.L615P	p.L615P	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		13	2009	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		615			Helical; (Potential).|ABC transporter 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1844T>C	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415993	0.83449	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.93712	-3.27;-3.27	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.075698	0.53938	D	0.000047	D	0.92625	0.7657	N	0.16233	0.39	0.80722	D	1	P;D	0.71674	0.779;0.998	P;D	0.67725	0.853;0.953	D	0.91752	0.5413	10	0.26408	T	0.33	-2.3262	15.486	0.75569	1.0:0.0:0.0:0.0	.	615;615	Q86UX3;O15440	.;MRP5_HUMAN	P	615;551;615	ENSP00000333926:L615P;ENSP00000265586:L615P	ENSP00000265586:L615P	L	-	2	0	ABCC5	185165973	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.673000	0.68109	2.045000	0.60652	0.533000	0.62120	CTA		0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		8	66	0	0	0	0.004482	0	8	66				
CHRD	8646	broad.mit.edu	37	3	184106429	184106429	+	Missense_Mutation	SNP	G	G	T	rs374891781	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:184106429G>T	ENST00000204604.1	+	21	2855	c.2609G>T	c.(2608-2610)cGg>cTg	p.R870L	CHRD_ENST00000348986.3_Missense_Mutation_p.R830L|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.R870L|CHRD_ENST00000545352.1_Missense_Mutation_p.R412L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	870					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R870L(1)|p.R870M(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGGGCCCCGGGGCTGCCGT	0.632																																							uc003fov.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2608-2610)CGG>CTG		chordin precursor							51.0	59.0	57.0					3																	184106429		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184106429G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2609G>T	3.37:g.184106429G>T	ENSP00000204604:p.Arg870Leu					CHRD_uc003fow.2_Missense_Mutation_p.R500L|CHRD_uc003fox.2_Missense_Mutation_p.R870L|CHRD_uc003foy.2_Missense_Mutation_p.R500L|CHRD_uc010hyc.2_Missense_Mutation_p.R460L|CHRD_uc011brr.1_Missense_Mutation_p.R412L	p.R870L	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	2855	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		870					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2609G>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801911	0.90538	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.74283	0.3696	L	0.52126	1.63	0.35093	D	0.76449	P;D;P;D	0.89917	0.941;1.0;0.485;1.0	P;D;B;D	0.73708	0.501;0.981;0.298;0.977	T	0.81302	-0.0994	10	0.54805	T	0.06	-25.759	16.7546	0.85496	0.0:0.0:1.0:0.0	.	412;830;870;870	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	L	870;870;830;412	ENSP00000204604:R870L;ENSP00000408972:R870L;ENSP00000334036:R830L;ENSP00000442948:R412L	ENSP00000204604:R870L	R	+	2	0	CHRD	185589123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.003000	0.76310	2.273000	0.75805	0.655000	0.94253	CGG		0.632	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		67	79	1	0	1.02016e-41	0.01441	2.31115e-41	67	79				
ZNF141	7700	broad.mit.edu	37	4	367610	367610	+	Missense_Mutation	SNP	C	C	T	rs567110286		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:367610C>T	ENST00000240499.7	+	4	1533	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	462					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R462W(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCCTTTAAACGGTTCTCACA	0.333													c|||	1	0.000199681	0.0	0.0	5008	,	,		19453	0.0		0.0	False		,,,				2504	0.001						uc003gaa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1384-1386)CGG>TGG		zinc finger protein 141							63.0	70.0	67.0					4																	367610		2202	4298	6500	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367610C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1384C>T	4.37:g.367610C>T	ENSP00000240499:p.Arg462Trp					ZNF141_uc003gab.2_Intron	p.R462W	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	1562	+			462			C2H2-type 11.		Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1384C>T	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	5.229	0.227765	0.09916	.	.	ENSG00000131127	ENST00000240499	T	0.19806	2.12	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18425	0.0442	L	0.55834	1.745	0.09310	N	1	B	0.20052	0.041	B	0.11329	0.006	T	0.22452	-1.0216	8	.	.	.	.	7.8922	0.29684	0.0:1.0:0.0:0.0	.	462	Q15928	ZN141_HUMAN	W	462	ENSP00000240499:R462W	.	R	+	1	2	ZNF141	357610	0.000000	0.05858	0.015000	0.15790	0.622000	0.37654	-0.396000	0.07278	0.591000	0.29711	0.313000	0.20887	CGG		0.333	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		24	81	0	0	0	0.003954	0	24	81				
UVSSA	57654	broad.mit.edu	37	4	1347164	1347164	+	Silent	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:1347164C>G	ENST00000389851.4	+	5	1344	c.897C>G	c.(895-897)ggC>ggG	p.G299G	UVSSA_ENST00000511216.1_Silent_p.G299G|UVSSA_ENST00000507531.1_Silent_p.G299G	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	299					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.G299G(1)									ACGGGCTGGGCTCGCACAAGT	0.682																																							uc003gde.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(895-897)GGC>GGG		hypothetical protein LOC57654							13.0	14.0	14.0					4																	1347164		2162	4220	6382	SO:0001819	synonymous_variant	57654							g.chr4:1347164C>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.897C>G	4.37:g.1347164C>G							p.G299G	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		5	1344	+			299					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.897C>G	CCDS33938.1																																																																																				0.682	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		3	10	0	0	0	0.004672	0	3	10				
LDB2	9079	broad.mit.edu	37	4	16590420	16590420	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:16590420G>T	ENST00000304523.5	-	4	767	c.444C>A	c.(442-444)acC>acA	p.T148T	LDB2_ENST00000441778.2_Silent_p.T148T|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Silent_p.T24T|LDB2_ENST00000502640.1_Silent_p.T148T|LDB2_ENST00000515064.1_Silent_p.T148T	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	148					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.T148T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GATCATCAAAGGTGAACTCCA	0.408																																							uc003goz.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(442-444)ACC>ACA		LIM domain binding 2 isoform a							200.0	171.0	181.0					4																	16590420		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16590420G>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.444C>A	4.37:g.16590420G>T						LDB2_uc003gpa.2_Silent_p.T148T|LDB2_uc003gpb.2_Silent_p.T148T|LDB2_uc011bxh.1_Silent_p.T148T|LDB2_uc010iee.2_Silent_p.T148T|LDB2_uc003goy.2_Silent_p.T24T|LDB2_uc011bxi.1_Silent_p.T24T	p.T148T	NM_001290	NP_001281	O43679	LDB2_HUMAN			4	760	-			148					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.444C>A	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279056	0.23307	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.45	3.68	0.42216	.	.	.	.	.	T	0.47358	0.1441	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42882	-0.9425	4	.	.	.	-5.1227	3.5331	0.07784	0.1202:0.1585:0.5585:0.1628	.	.	.	.	H	70	.	.	P	-	2	0	LDB2	16199518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.297000	0.33400	1.410000	0.46936	0.655000	0.94253	CCT		0.408	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			16	66	1	0	1.5739e-10	0.004007	2.77874e-10	16	66				
NFXL1	152518	broad.mit.edu	37	4	47880674	47880674	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:47880674T>A	ENST00000507489.1	-	17	2123	c.1947A>T	c.(1945-1947)ccA>ccT	p.P649P	NFXL1_ENST00000381538.3_Silent_p.P649P|NFXL1_ENST00000329043.3_Silent_p.P649P	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	649						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P649P(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GGCATGGTAGTGGACTCACCT	0.368																																							uc010igh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1945-1947)CCA>CCT		nuclear transcription factor, X-box binding-like							104.0	104.0	104.0					4																	47880674		2203	4300	6503	SO:0001819	synonymous_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47880674T>A	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1947A>T	4.37:g.47880674T>A						NFXL1_uc003gxo.2_5'UTR|NFXL1_uc003gxp.2_Silent_p.P649P|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Silent_p.P649P	p.P649P	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			17	2124	-			649					B1Q2K1|Q86VG1|Q8WVH1	Silent	SNP	ENST00000507489.1	37	c.1947A>T	CCDS3478.2																																																																																				0.368	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		25	64	0	0	0	0.005443	0	25	64				
NDST3	9348	broad.mit.edu	37	4	119161837	119161837	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:119161837C>G	ENST00000296499.5	+	11	2680	c.2277C>G	c.(2275-2277)ttC>ttG	p.F759L		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	759	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.F759L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGTTTATTTCCCCCCATTTC	0.448																																							uc003ibx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2275-2277)TTC>TTG		N-deacetylase/N-sulfotransferase (heparan							81.0	74.0	76.0					4																	119161837		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119161837C>G	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2277C>G	4.37:g.119161837C>G	ENSP00000296499:p.Phe759Leu						p.F759L	NM_004784	NP_004775	O95803	NDST3_HUMAN			11	2680	+			759			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.2277C>G	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427897	0.62733	.	.	ENSG00000164100	ENST00000296499	T	0.60299	0.2	5.49	2.84	0.33178	Sulfotransferase domain (1);	0.055115	0.85682	D	0.000000	T	0.64768	0.2628	M	0.84585	2.705	0.80722	D	1	B	0.25169	0.119	B	0.36335	0.222	T	0.67448	-0.5668	10	0.87932	D	0	.	10.7141	0.46002	0.0:0.7939:0.0:0.2061	.	759	O95803	NDST3_HUMAN	L	759	ENSP00000296499:F759L	ENSP00000296499:F759L	F	+	3	2	NDST3	119381285	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.055000	0.30467	0.819000	0.34492	-0.734000	0.03567	TTC		0.448	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		13	51	0	0	0	0.003163	0	13	51				
FAT4	79633	broad.mit.edu	37	4	126371065	126371065	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:126371065G>T	ENST00000394329.3	+	9	8907	c.8894G>T	c.(8893-8895)aGt>aTt	p.S2965I	FAT4_ENST00000335110.5_Missense_Mutation_p.S1263I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2965	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2965I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTTAATTAGTGAGACAACA	0.333																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8893-8895)AGT>ATT		FAT tumor suppressor homolog 4 precursor							67.0	69.0	68.0					4																	126371065		2203	4298	6501	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371065G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8894G>T	4.37:g.126371065G>T	ENSP00000377862:p.Ser2965Ile					FAT4_uc011cgp.1_Missense_Mutation_p.S1263I|FAT4_uc003ifi.1_Missense_Mutation_p.S443I	p.S2965I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8894	+			2965			Cadherin 28.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8894G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988784	0.74589	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;0.5	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.000000	0.40222	U	0.001143	T	0.77785	0.4182	M	0.86740	2.835	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.996;0.999;0.998	T	0.81293	-0.0998	10	0.72032	D	0.01	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	1263;2965;2965	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	2965;1263	ENSP00000377862:S2965I;ENSP00000335169:S1263I	ENSP00000335169:S1263I	S	+	2	0	FAT4	126590515	1.000000	0.71417	0.966000	0.40874	0.967000	0.64934	9.611000	0.98342	2.664000	0.90586	0.655000	0.94253	AGT		0.333	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		26	35	1	0	6.32553e-13	0.004656	1.19069e-12	26	35				
FGA	2243	broad.mit.edu	37	4	155506940	155506940	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:155506940C>A	ENST00000302053.3	-	5	1719	c.1641G>T	c.(1639-1641)agG>agT	p.R547S	FGA_ENST00000403106.3_Missense_Mutation_p.R547S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	547					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.R547S(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTCTGAGCCCCTAGACTCAG	0.458																																					NSCLC(143;340 1922 20892 22370 48145)	NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1639-1641)AGG>AGT		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						74.0	74.0	74.0					4																	155506940		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506940C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1641G>T	4.37:g.155506940C>A	ENSP00000306361:p.Arg547Ser					FGA_uc003ioe.1_Missense_Mutation_p.R547S|FGA_uc003iof.1_Intron	p.R547S	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1699	-	all_hematologic(180;0.215)	Renal(120;0.0458)	547			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1641G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	0.270	-0.993569	0.02145	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.54675	0.56;2.98	2.87	2.01	0.26516	.	44.435100	0.00166	N	0.000000	T	0.31606	0.0802	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.001	T	0.27571	-1.0070	10	0.07482	T	0.82	.	7.9008	0.29734	0.0:0.7453:0.2547:0.0	.	547;547	P02671-2;P02671	.;FIBA_HUMAN	S	547	ENSP00000306361:R547S;ENSP00000385981:R547S	ENSP00000306361:R547S	R	-	3	2	FGA	155726390	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.457000	0.06745	0.732000	0.32470	0.655000	0.94253	AGG		0.458	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		26	64	1	0	7.41945e-09	0.005443	1.29209e-08	26	64				
KLHL2	11275	broad.mit.edu	37	4	166231753	166231753	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr4:166231753G>T	ENST00000226725.6	+	10	1347	c.1088G>T	c.(1087-1089)gGc>gTc	p.G363V	KLHL2_ENST00000506761.1_Missense_Mutation_p.G197V|KLHL2_ENST00000514860.1_Missense_Mutation_p.G367V|KLHL2_ENST00000421009.2_Missense_Mutation_p.G266V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.G275V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	363					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.G363V(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGCTTTAATGGCTCATTAAGA	0.478																																							uc003irb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)GGC>GTC		kelch-like 2, Mayven isoform 1							315.0	314.0	314.0					4																	166231753		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166231753G>T	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1088G>T	4.37:g.166231753G>T	ENSP00000226725:p.Gly363Val					KLHL2_uc011cjm.1_Missense_Mutation_p.G367V|KLHL2_uc003irc.2_Missense_Mutation_p.G275V|KLHL2_uc010ira.2_Missense_Mutation_p.G16V	p.G363V	NM_007246	NP_009177	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	10	1347	+	all_hematologic(180;0.221)		363			Kelch 2.		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.1088G>T	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707168	0.68615	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.6	5.6	0.85130	Galactose oxidase, beta-propeller (1);	0.047292	0.85682	D	0.000000	D	0.93207	0.7836	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.94288	0.7526	10	0.56958	D	0.05	.	19.6215	0.95658	0.0:0.0:1.0:0.0	.	367;363;363	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	V	363;367;275;266;197	ENSP00000226725:G363V;ENSP00000424198:G367V;ENSP00000437526:G275V;ENSP00000408974:G266V;ENSP00000424108:G197V	ENSP00000226725:G363V	G	+	2	0	KLHL2	166451203	1.000000	0.71417	0.959000	0.39883	0.153000	0.21895	9.869000	0.99810	2.625000	0.88918	0.650000	0.86243	GGC		0.478	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			90	346	1	0	4.64247e-43	0.01441	1.06114e-42	90	346				
PRLR	5618	broad.mit.edu	37	5	35065333	35065333	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:35065333G>A	ENST00000382002.5	-	10	2153	c.1727C>T	c.(1726-1728)gCc>gTc	p.A576V	PRLR_ENST00000231423.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A475V|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.A475V|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	576					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.A576V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GGCCTCTTTGGCTGATTCTTC	0.502																																							uc003jjm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1726-1728)GCC>GTC		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						98.0	87.0	91.0					5																	35065333		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065333G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1727C>T	5.37:g.35065333G>A	ENSP00000371432:p.Ala576Val					PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.A475V	p.A576V	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2257	-	all_lung(31;3.83e-05)		576			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1727C>T	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	7.992	0.753460	0.15778	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.88509	-2.39;-1.47;-2.39	5.65	4.78	0.61160	.	0.427722	0.27219	N	0.020379	D	0.90103	0.6908	M	0.62723	1.935	0.22896	N	0.998598	D;P	0.54207	0.965;0.906	P;P	0.52909	0.637;0.713	D	0.83479	0.0063	10	0.46703	T	0.11	-2.8848	10.8669	0.46860	0.1494:0.0:0.8506:0.0	.	576;475	P16471;P16471-2	PRLR_HUMAN;.	V	475;576;475	ENSP00000339213:A475V;ENSP00000371432:A576V;ENSP00000422556:A475V	ENSP00000339213:A475V	A	-	2	0	PRLR	35101090	0.995000	0.38212	0.051000	0.19133	0.111000	0.19643	1.664000	0.37439	1.391000	0.46566	0.655000	0.94253	GCC		0.502	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			34	56	0	0	0	0.003755	0	34	56				
SLC30A5	64924	broad.mit.edu	37	5	68400536	68400536	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:68400536C>G	ENST00000396591.3	+	4	962	c.352C>G	c.(352-354)Cca>Gca	p.P118A	SLC30A5_ENST00000380860.4_3'UTR	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	118					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.P118A(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCTTTGTGGACCACTAAGGTA	0.289																																							uc003jvh.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(352-354)CCA>GCA		solute carrier family 30 (zinc transporter),							131.0	132.0	132.0					5																	68400536		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68400536C>G	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.352C>G	5.37:g.68400536C>G	ENSP00000379836:p.Pro118Ala					SLC30A5_uc003jvg.2_3'UTR|SLC30A5_uc011crc.1_RNA|SLC30A5_uc003jvi.2_Intron	p.P118A	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	4	553	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	118			Helical; (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.352C>G	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942919	0.92526	.	.	ENSG00000145740	ENST00000396591	T	0.75704	-0.96	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83310	-0.0023	10	0.54805	T	0.06	-11.5131	20.0728	0.97731	0.0:1.0:0.0:0.0	.	118	Q8TAD4	ZNT5_HUMAN	A	118	ENSP00000379836:P118A	ENSP00000379836:P118A	P	+	1	0	SLC30A5	68436292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.379000	0.79691	2.840000	0.97914	0.655000	0.94253	CCA		0.289	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			6	179	0	0	0	0.001984	0	6	179				
CCNB1	891	broad.mit.edu	37	5	68473356	68473356	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:68473356C>T	ENST00000256442.5	+	9	1453	c.1200C>T	c.(1198-1200)gtC>gtT	p.V400V	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	400					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)	p.V400V(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAGACTGTCAAGAACAAGT	0.368																																							uc003jvm.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1198-1200)GTC>GTT		cyclin B1							152.0	155.0	154.0					5																	68473356		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68473356C>T	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.1200C>T	5.37:g.68473356C>T						CCNB1_uc010ixb.2_Silent_p.V363V	p.V400V	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	9	1377	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	400					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.1200C>T	CCDS3997.1																																																																																				0.368	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		90	160	0	0	0	0.01441	0	90	160				
SLC27A6	28965	broad.mit.edu	37	5	128302275	128302275	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:128302275C>A	ENST00000262462.4	+	1	1455	c.445C>A	c.(445-447)Cgc>Agc	p.R149S	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R149S|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R149S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	149					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R149S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATTGCATCCGCGCCTGTGG	0.587																																							uc003kuy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CGC>AGC		solute carrier family 27 (fatty acid							44.0	32.0	36.0					5																	128302275		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302275C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.445C>A	5.37:g.128302275C>A	ENSP00000262462:p.Arg149Ser					SLC27A6_uc003kuz.2_Missense_Mutation_p.R149S	p.R149S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	2	841	+		all_cancers(142;0.0483)|Prostate(80;0.055)	149					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.445C>A	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	0.900	-0.722645	0.03158	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.39997	1.05;1.05;1.05	4.18	1.26	0.21427	AMP-dependent synthetase/ligase (1);	0.969547	0.08601	N	0.921544	T	0.22166	0.0534	N	0.13371	0.34	0.19945	N	0.999945	B	0.12630	0.006	B	0.18561	0.022	T	0.25187	-1.0139	10	0.06365	T	0.9	-4.4793	8.1558	0.31167	0.445:0.4752:0.0:0.0798	.	149	Q9Y2P4	S27A6_HUMAN	S	149	ENSP00000262462:R149S;ENSP00000378684:R149S;ENSP00000421024:R149S	ENSP00000262462:R149S	R	+	1	0	SLC27A6	128330174	0.002000	0.14202	0.597000	0.28824	0.557000	0.35523	0.139000	0.16036	0.258000	0.21686	0.561000	0.74099	CGC		0.587	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		12	23	1	0	7.93312e-07	0.00245	1.30185e-06	12	23				
PCDHB3	56132	broad.mit.edu	37	5	140480848	140480848	+	Silent	SNP	G	G	A	rs575727677		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:140480848G>A	ENST00000231130.2	+	1	615	c.615G>A	c.(613-615)caG>caA	p.Q205Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	205	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q205Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAGGAGCAGCCGGAACTCA	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17573	0.0		0.0	False		,,,				2504	0.0						uc003lio.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(613-615)CAG>CAA		protocadherin beta 3 precursor							60.0	58.0	58.0					5																	140480848		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480848G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.615G>A	5.37:g.140480848G>A						uc003lin.2_Intron	p.Q205Q	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	615	+			205			Extracellular (Potential).|Cadherin 2.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.615G>A	CCDS4245.1																																																																																				0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		41	76	0	0	0	0.009718	0	41	76				
PCDHGA4	56111	broad.mit.edu	37	5	140734986	140734986	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:140734986G>T	ENST00000571252.1	+	1	219	c.219G>T	c.(217-219)caG>caT	p.Q73H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	73	Cadherin 1. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGACGCAGCTTTTCGCCC	0.637																																							uc003ljq.1		NA																	0					0						c.(217-219)CAG>CAT		protocadherin gamma subfamily A, 4 isoform 1							53.0	63.0	60.0					5																	140734986		2188	4299	6487	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734986G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.219G>T	5.37:g.140734986G>T	ENSP00000458570:p.Gln73His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q73H	p.Q73H	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	219	+			73			Cadherin 1.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.219G>T	CCDS58979.1																																																																																				0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		9	137	1	0	7.48243e-07	0.006214	1.24383e-06	9	137				
PCDHGB2	56103	broad.mit.edu	37	5	140740860	140740860	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:140740860G>T	ENST00000522605.1	+	1	1158	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V386V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCCAAGTGTTGGGAAATG	0.463																																							uc003ljs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1156-1158)GTG>GTT		protocadherin gamma subfamily B, 2 isoform 1							66.0	71.0	70.0					5																	140740860		2024	4190	6214	SO:0001819	synonymous_variant	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740860G>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1158G>T	5.37:g.140740860G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.V386V	p.V386V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1158	+			386			Extracellular (Potential).|Cadherin 4.		Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.1158G>T	CCDS54924.1																																																																																				0.463	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		49	86	1	0	2.13384e-23	0.01441	4.3701e-23	49	86				
SLC36A1	206358	broad.mit.edu	37	5	150844717	150844717	+	Missense_Mutation	SNP	G	G	A	rs201241765		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:150844717G>A	ENST00000243389.3	+	5	629	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC36A1_ENST00000429484.2_Missense_Mutation_p.A136T|SLC36A1_ENST00000521925.1_Missense_Mutation_p.A136T|SLC36A1_ENST00000520701.1_Missense_Mutation_p.A136T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	136					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.A136T(2)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCGGAACCACGCACACTGGGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21852	0.0		0.0	False		,,,				2504	0.0				Melanoma(151;1534 1860 12947 32979 37872)	Melanoma(151;1534 1860 12947 32979 37872)	uc003luc.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	skin(1)	1						c.(406-408)GCA>ACA		solute carrier family 36 member 1	Glycine(DB00145)|L-Alanine(DB00160)						116.0	110.0	112.0					5																	150844717		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150844717G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.406G>A	5.37:g.150844717G>A	ENSP00000243389:p.Ala136Thr					GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.A136T|SLC36A1_uc010jhw.1_Missense_Mutation_p.A136T	p.A136T	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	623	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	136			Cytoplasmic (Potential).		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.406G>A	CCDS4316.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.34	2.506421	0.44558	.	.	ENSG00000123643	ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925	T;T;T;T	0.02579	4.24;4.24;4.24;4.24	5.32	2.01	0.26516	.	0.240239	0.42821	D	0.000641	T	0.14527	0.0351	M	0.92507	3.315	0.09310	N	1	P;P	0.52577	0.698;0.954	B;P	0.54238	0.269;0.746	T	0.09037	-1.0693	10	0.66056	D	0.02	.	13.9821	0.64310	0.0:0.0:0.4307:0.5693	.	136;136	E7EW39;Q7Z2H8	.;S36A1_HUMAN	T	136	ENSP00000428140:A136T;ENSP00000395640:A136T;ENSP00000243389:A136T;ENSP00000430305:A136T	ENSP00000243389:A136T	A	+	1	0	SLC36A1	150824910	0.681000	0.27614	0.020000	0.16555	0.901000	0.52897	1.347000	0.33975	0.540000	0.28808	0.561000	0.74099	GCA		0.522	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		15	132	0	0	0	0.00499	0	15	132				
GABRA6	2559	broad.mit.edu	37	5	161128527	161128527	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:161128527G>T	ENST00000274545.5	+	9	1543	c.1110G>T	c.(1108-1110)ctG>ctT	p.L370L	GABRA6_ENST00000523217.1_Silent_p.L360L			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	370					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L370L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AATATCATCTGAAGAAAAGGA	0.383										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1108-1110)CTG>CTT		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						105.0	110.0	108.0					5																	161128527		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128527G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1110G>T	5.37:g.161128527G>T		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Silent_p.L141L	p.L370L	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1448	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	370			Cytoplasmic (Probable).		A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1110G>T	CCDS4356.1																																																																																				0.383	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			77	133	1	0	1.59627e-33	0.01441	3.49269e-33	77	133				
HRH2	3274	broad.mit.edu	37	5	175111225	175111225	+	Missense_Mutation	SNP	G	G	A	rs141845922		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr5:175111225G>A	ENST00000231683.2	+	1	2762	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HRH2_ENST00000377291.2_Missense_Mutation_p.R330Q	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	330					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.R330Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ACCCAAAGCCGAGAACCCAGG	0.592																																							uc003mdd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)CGA>CAA		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	85.0	84.0		989,989	-6.8	0.0	5	dbSNP_134	84	0,8600		0,0,4300	no	missense,missense	HRH2	NM_001131055.1,NM_022304.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	330/398,330/360	175111225	1,13005	2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175111225G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.989G>A	5.37:g.175111225G>A	ENSP00000231683:p.Arg330Gln					HRH2_uc003mdc.3_Missense_Mutation_p.R330Q	p.R330Q	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	2762	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	330			Cytoplasmic (Potential).		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.989G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289177	0.23478	2.27E-4	0.0	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.64618	-0.11;-0.1	4.83	-6.8	0.01709	.	1.302740	0.05286	N	0.520242	T	0.39064	0.1064	N	0.19112	0.55	0.09310	N	1	B;B	0.17852	0.005;0.024	B;B	0.09377	0.0;0.004	T	0.24905	-1.0147	10	0.13470	T	0.59	.	8.3293	0.32175	0.5651:0.1868:0.248:0.0	.	330;330	P25021;Q7Z5R9	HRH2_HUMAN;.	Q	330	ENSP00000366506:R330Q;ENSP00000231683:R330Q	ENSP00000231683:R330Q	R	+	2	0	HRH2	175043831	0.000000	0.05858	0.000000	0.03702	0.782000	0.44232	-0.354000	0.07681	-1.505000	0.01807	0.650000	0.86243	CGA		0.592	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			5	167	0	0	0	0.000602	0	5	167				
CLIC1	1192	broad.mit.edu	37	6	31700099	31700099	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:31700099A>C	ENST00000375780.2	-	6	1031	c.459T>G	c.(457-459)gaT>gaG	p.D153E	CLIC1_ENST00000375779.2_Missense_Mutation_p.D153E|CLIC1_ENST00000395892.1_Missense_Mutation_p.D153E|CLIC1_ENST00000375784.3_Missense_Mutation_p.D153E|DDAH2_ENST00000480913.1_5'Flank|DDAH2_ENST00000375789.2_5'Flank|DDAH2_ENST00000375787.2_5'Flank|DDAH2_ENST00000375792.3_5'Flank			O00299	CLIC1_HUMAN	chloride intracellular channel 1	153	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.D153E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CACTGGTTTCATCCACTTCTT	0.478																																							uc003nwr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(457-459)GAT>GAG		chloride intracellular channel 1							118.0	114.0	115.0					6																	31700099		2203	4300	6503	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31700099A>C	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.459T>G	6.37:g.31700099A>C	ENSP00000364935:p.Asp153Glu					DDAH2_uc003nwp.2_5'Flank|DDAH2_uc003nwq.2_5'Flank|CLIC1_uc003rje.2_Missense_Mutation_p.D153E	p.D153E	NM_001288	NP_001279	O00299	CLIC1_HUMAN			5	723	-			153			GST C-terminal.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.459T>G	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250254	0.80024	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	6.04	2.45	0.29901	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	U	0.000002	D	0.91690	0.7373	M	0.69358	2.11	0.53005	D	0.999968	D	0.61697	0.99	D	0.68353	0.957	D	0.89359	0.3666	10	0.37606	T	0.19	-15.6098	7.9707	0.30126	0.7636:0.0:0.2364:0.0	.	153	O00299	CLIC1_HUMAN	E	153	ENSP00000364940:D153E;ENSP00000364934:D153E;ENSP00000364935:D153E;ENSP00000379229:D153E	ENSP00000364934:D153E	D	-	3	2	CLIC1	31808078	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.407000	0.21049	0.538000	0.28769	0.459000	0.35465	GAT		0.478	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		10	123	0	0	0	0.006214	0	10	123				
NOTCH4	4855	broad.mit.edu	37	6	32170343	32170343	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:32170343G>T	ENST00000375023.3	-	21	3403	c.3265C>A	c.(3265-3267)Cct>Act	p.P1089T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1089	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.P1089T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCGCAGGAAGGGGCCCTGTGG	0.607																																							uc003obb.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3265-3267)CCT>ACT		notch4 preproprotein							17.0	23.0	21.0					6																	32170343		1491	2687	4178	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32170343G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3265C>A	6.37:g.32170343G>T	ENSP00000364163:p.Pro1089Thr					NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	p.P1089T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			21	3404	-			1089			EGF-like 28.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3265C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762005	0.31228	.	.	ENSG00000204301	ENST00000375023	D	0.86497	-2.13	5.14	4.26	0.50523	Epidermal growth factor-like, type 3 (1);	0.327983	0.22183	N	0.063466	T	0.66790	0.2825	L	0.29908	0.895	0.47245	D	0.999367	B	0.15141	0.012	B	0.16722	0.016	T	0.62348	-0.6873	10	0.13853	T	0.58	.	12.6747	0.56887	0.0:0.0:0.834:0.166	.	1089	Q99466	NOTC4_HUMAN	T	1089	ENSP00000364163:P1089T	ENSP00000364163:P1089T	P	-	1	0	NOTCH4	32278321	0.309000	0.24518	1.000000	0.80357	0.996000	0.88848	3.102000	0.50291	1.356000	0.45884	0.561000	0.74099	CCT		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	16	1	0	3.09899e-07	0.004482	5.18523e-07	8	16				
LRFN2	57497	broad.mit.edu	37	6	40399871	40399871	+	Missense_Mutation	SNP	G	G	T	rs376425369		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:40399871G>T	ENST00000338305.6	-	2	1524	c.982C>A	c.(982-984)Cgc>Agc	p.R328S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	328	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R328S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTACCAGGCGGTCATCGGGG	0.587																																							uc003oph.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(982-984)CGC>AGC		leucine rich repeat and fibronectin type III							47.0	42.0	44.0					6																	40399871		2203	4298	6501	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399871G>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.982C>A	6.37:g.40399871G>T	ENSP00000345985:p.Arg328Ser						p.R328S	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1447	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		328			Extracellular (Potential).|Ig-like.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.982C>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509575	0.64522	.	.	ENSG00000156564	ENST00000338305	T	0.63913	-0.07	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147569	0.64402	D	0.000020	T	0.61862	0.2381	L	0.49699	1.58	0.58432	D	0.999996	D	0.52996	0.957	P	0.57720	0.826	T	0.63510	-0.6621	10	0.48119	T	0.1	.	12.8561	0.57886	0.0:0.0:0.8369:0.1631	.	328	Q9ULH4	LRFN2_HUMAN	S	328	ENSP00000345985:R328S	ENSP00000345985:R328S	R	-	1	0	LRFN2	40507849	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.852000	0.55934	2.555000	0.86185	0.655000	0.94253	CGC		0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		12	25	1	0	5.50884e-06	0.013537	8.98256e-06	12	25				
TREML2	79865	broad.mit.edu	37	6	41166018	41166018	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:41166018G>T	ENST00000483722.1	-	2	390	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	69	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R128R(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCCAGACTCGGGCAAAGCCA	0.577																																							uc010jxm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(205-207)CGA>AGA		triggering receptor expressed on myeloid							129.0	128.0	128.0					6																	41166018		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166018G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.205C>A	6.37:g.41166018G>T							p.R69R	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			2	384	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		69			Ig-like V-type.|Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.205C>A	CCDS4853.2																																																																																				0.577	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		34	91	1	0	5.91797e-21	0.012213	1.19291e-20	34	91				
TFAP2B	7021	broad.mit.edu	37	6	50807918	50807918	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:50807918G>T	ENST00000393655.3	+	6	1159	c.990G>T	c.(988-990)gaG>gaT	p.E330D	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E339D	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	330					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E330D(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCGAAACGGAGTTTCCCGCCA	0.483																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(988-990)GAG>GAT		transcription factor AP-2 beta							120.0	130.0	127.0					6																	50807918		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807918G>T	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.990G>T	6.37:g.50807918G>T	ENSP00000377265:p.Glu330Asp						p.E330D	NM_003221	NP_003212	Q92481	AP2B_HUMAN			6	1156	+	Lung NSC(77;0.156)		330					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.990G>T	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036593	0.75617	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97089	-4.24;-4.24	5.67	2.53	0.30540	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.82923	2.615	0.58432	D	0.999998	D	0.63046	0.992	D	0.77004	0.989	D	0.97285	0.9920	10	0.54805	T	0.06	-16.5768	10.9496	0.47321	0.263:0.0:0.737:0.0	.	330	Q92481	AP2B_HUMAN	D	330;339	ENSP00000377265:E330D;ENSP00000263046:E339D	ENSP00000263046:E339D	E	+	3	2	TFAP2B	50915877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.496000	0.45346	0.762000	0.33152	0.655000	0.94253	GAG		0.483	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		58	144	1	0	2.93687e-30	0.01441	6.31798e-30	58	144				
B3GAT2	135152	broad.mit.edu	37	6	71665881	71665881	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:71665881G>A	ENST00000230053.6	-	1	860	c.252C>T	c.(250-252)gcC>gcT	p.A84A		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	84					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)	p.A84A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGGGCGTGATGGCATAGATGG	0.701																																							uc003pfv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(250-252)GCC>GCT		beta-1,3-glucuronyltransferase 2							33.0	37.0	36.0					6																	71665881		2201	4297	6498	SO:0001819	synonymous_variant	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71665881G>A	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.252C>T	6.37:g.71665881G>A						B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Silent_p.A84A	p.A84A	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN			1	908	-			84			Lumenal (Potential).		Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	c.252C>T	CCDS4974.1																																																																																				0.701	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		8	35	0	0	0	0.006214	0	8	35				
MDN1	23195	broad.mit.edu	37	6	90424410	90424410	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:90424410T>A	ENST00000369393.3	-	46	7036	c.6921A>T	c.(6919-6921)ggA>ggT	p.G2307G	MDN1_ENST00000428876.1_Silent_p.G2307G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2307					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G2307G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGATTTCAAGTCCACGATTCC	0.418																																							uc003pnn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(6919-6921)GGA>GGT		MDN1, midasin homolog							122.0	105.0	111.0					6																	90424410		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90424410T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6921A>T	6.37:g.90424410T>A							p.G2307G	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	46	7037	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2307					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.6921A>T	CCDS5024.1																																																																																				0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			21	52	0	0	0	0.008871	0	21	52				
EYA4	2070	broad.mit.edu	37	6	133783899	133783899	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:133783899C>T	ENST00000367895.5	+	9	1185	c.721C>T	c.(721-723)Cca>Tca	p.P241S	EYA4_ENST00000431403.2_Missense_Mutation_p.P241S|EYA4_ENST00000525849.1_Missense_Mutation_p.P218S|EYA4_ENST00000355167.3_Missense_Mutation_p.P241S|EYA4_ENST00000355286.6_Missense_Mutation_p.P218S|EYA4_ENST00000452339.2_Missense_Mutation_p.P187S|EYA4_ENST00000531901.1_Missense_Mutation_p.P241S|EYA4_ENST00000430974.2_Missense_Mutation_p.P187S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	241					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.P241S(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTACCAAATGCCAGGTAAGTA	0.453																																					Melanoma(57;398 1237 3528 4702 7415)	Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(721-723)CCA>TCA		eyes absent 4 isoform a							71.0	69.0	69.0					6																	133783899		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783899C>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.721C>T	6.37:g.133783899C>T	ENSP00000356870:p.Pro241Ser					EYA4_uc011ecq.1_Missense_Mutation_p.P187S|EYA4_uc011ecr.1_Missense_Mutation_p.P187S|EYA4_uc003qed.3_Missense_Mutation_p.P241S|EYA4_uc003qee.3_Missense_Mutation_p.P218S|EYA4_uc011ecs.1_Missense_Mutation_p.P241S|uc003qef.1_Intron	p.P241S	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1179	+	Colorectal(23;0.221)		241					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.721C>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856396	0.51376	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.89681	-2.47;-2.42;-2.55;-2.54;-2.53;-2.54;-2.53;-2.54	5.63	5.63	0.86233	.	0.046853	0.85682	D	0.000000	D	0.87989	0.6317	L	0.44542	1.39	0.80722	D	1	P;B;D;P;P;P	0.56287	0.504;0.167;0.975;0.952;0.837;0.486	B;B;P;P;B;B	0.53861	0.281;0.053;0.736;0.591;0.373;0.281	D	0.85496	0.1188	10	0.29301	T	0.29	-17.2461	19.6818	0.95967	0.0:1.0:0.0:0.0	.	241;187;187;218;241;241	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	S	187;187;241;241;218;241;218;241	ENSP00000395916:P187S;ENSP00000388670:P187S;ENSP00000356870:P241S;ENSP00000347294:P241S;ENSP00000347434:P218S;ENSP00000432770:P241S;ENSP00000433219:P218S;ENSP00000404558:P241S	ENSP00000347294:P241S	P	+	1	0	EYA4	133825592	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	7.484000	0.81180	2.644000	0.89710	0.650000	0.86243	CCA		0.453	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		21	45	0	0	0	0.003954	0	21	45				
PLEKHG1	57480	broad.mit.edu	37	6	151161073	151161073	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:151161073C>T	ENST00000358517.2	+	16	3410	c.3199C>T	c.(3199-3201)Ctc>Ttc	p.L1067F	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L1067F			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1067							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1067F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGAATCCTCCCTCCTGAGGTC	0.493																																							uc003qny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3199-3201)CTC>TTC		pleckstrin homology domain containing, family G							69.0	71.0	70.0					6																	151161073		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161073C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3199C>T	6.37:g.151161073C>T	ENSP00000351318:p.Leu1067Phe					PLEKHG1_uc011eem.1_Missense_Mutation_p.L1126F	p.L1067F	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3511	+			1067					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3199C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	1.986	-0.432891	0.04669	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.60299	0.2;0.2	5.81	1.27	0.21489	.	0.889113	0.10175	N	0.706589	T	0.21267	0.0512	L	0.36672	1.1	0.09310	N	1	B;B	0.25521	0.068;0.128	B;B	0.23716	0.025;0.048	T	0.21245	-1.0251	10	0.41790	T	0.15	.	3.3222	0.07054	0.4228:0.3481:0.1396:0.0894	.	874;1067	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	F	1067	ENSP00000356297:L1067F;ENSP00000351318:L1067F	ENSP00000351318:L1067F	L	+	1	0	PLEKHG1	151202766	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.095000	0.15127	0.191000	0.20236	0.655000	0.94253	CTC		0.493	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			17	52	0	0	0	0.00499	0	17	52				
T	6862	broad.mit.edu	37	6	166578318	166578318	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:166578318A>C	ENST00000296946.2	-	5	1106	c.638T>G	c.(637-639)tTt>tGt	p.F213C	T_ENST00000366871.3_Missense_Mutation_p.F213C	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	213					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F213C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGCTTTTGCAAATGGATTGTA	0.348									Chordoma, Familial Clustering of																														uc003quu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(637-639)TTT>TGT		transcription factor T							54.0	59.0	57.0					6																	166578318		2203	4297	6500	SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166578318A>C	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.638T>G	6.37:g.166578318A>C	ENSP00000296946:p.Phe213Cys					T_uc003qut.1_Missense_Mutation_p.F213C|T_uc003quv.1_Missense_Mutation_p.F213C	p.F213C	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	5	1131	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	213			T-box.		E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.638T>G	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119972	0.77323	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.92647	-3.08;-3.08;-3.08	5.17	5.17	0.71159	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98951	1.0794	10	0.87932	D	0	.	14.2284	0.65875	1.0:0.0:0.0:0.0	.	213;213;213	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	C	213	ENSP00000355841:F213C;ENSP00000296946:F213C;ENSP00000355836:F213C	ENSP00000296946:F213C	F	-	2	0	T	166498308	1.000000	0.71417	0.959000	0.39883	0.992000	0.81027	8.253000	0.89842	1.957000	0.56846	0.528000	0.53228	TTT		0.348	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		16	42	0	0	0	0.007413	0	16	42				
GPR31	2853	broad.mit.edu	37	6	167570422	167570422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr6:167570422G>T	ENST00000366834.1	-	1	1395	c.898C>A	c.(898-900)Ctc>Atc	p.L300I		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L300I(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TTGCCTCGGAGGGTGTGGAAG	0.592																																							uc011egq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(898-900)CTC>ATC		G protein-coupled receptor 31							54.0	58.0	56.0					6																	167570422		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167570422G>T	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.898C>A	6.37:g.167570422G>T	ENSP00000355799:p.Leu300Ile						p.L300I	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	898	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	300			Cytoplasmic (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.898C>A	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745900	0.30955	.	.	ENSG00000120436	ENST00000366834	T	0.38401	1.14	3.54	0.537	0.17144	.	1.934130	0.03613	U	0.235099	T	0.09423	0.0232	L	0.27053	0.805	0.09310	N	1	P	0.42357	0.777	B	0.39339	0.297	T	0.07443	-1.0772	10	0.30854	T	0.27	-22.0133	2.6949	0.05132	0.2484:0.0:0.4209:0.3307	.	300	O00270	GPR31_HUMAN	I	300	ENSP00000355799:L300I	ENSP00000355799:L300I	L	-	1	0	GPR31	167490412	0.007000	0.16637	0.000000	0.03702	0.354000	0.29330	0.173000	0.16724	0.699000	0.31761	0.313000	0.20887	CTC		0.592	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		20	42	1	0	2.39187e-15	0.008871	4.63878e-15	20	42				
TWISTNB	221830	broad.mit.edu	37	7	19748635	19748635	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:19748635G>A	ENST00000222567.5	-	1	75	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	2					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.A2V(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GCAACCTGCAGCCATGCTGCT	0.652											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003sup.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCT>GTT		TWIST neighbor							18.0	21.0	20.0					7																	19748635		2191	4275	6466	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748635G>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.5C>T	7.37:g.19748635G>A	ENSP00000222567:p.Ala2Val		OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.A2V	NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN			1	26	-			2					A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.5C>T	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466980	0.84425	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.21	3.24	0.37175	.	0.123127	0.53938	D	0.000044	T	0.30198	0.0757	L	0.27053	0.805	0.34404	D	0.695604	P	0.43094	0.799	B	0.36845	0.234	T	0.50866	-0.8777	9	0.72032	D	0.01	-15.2803	8.9935	0.36039	0.0895:0.1531:0.7573:0.0	.	2	Q3B726	RPA43_HUMAN	V	2	.	ENSP00000222567:A2V	A	-	2	0	TWISTNB	19715160	1.000000	0.71417	0.997000	0.53966	0.164000	0.22412	3.192000	0.50989	2.328000	0.79073	0.655000	0.94253	GCT		0.652	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			6	35	0	0	0	0.001168	0	6	35				
PDE1C	5137	broad.mit.edu	37	7	31876892	31876892	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:31876892A>C	ENST00000396191.1	-	11	1560	c.1105T>G	c.(1105-1107)Tcc>Gcc	p.S369A	PDE1C_ENST00000321453.7_Missense_Mutation_p.S369A|PDE1C_ENST00000396193.1_Missense_Mutation_p.S429A|PDE1C_ENST00000396184.3_Missense_Mutation_p.S369A|PDE1C_ENST00000396182.2_Missense_Mutation_p.S369A	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	369	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.S369A(2)|p.S429A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGCATAAGGGATAAGGCTTTT	0.423																																							uc003tcm.1		NA																	3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1105-1107)TCC>GCC		phosphodiesterase 1C							168.0	145.0	153.0					7																	31876892		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31876892A>C	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1105T>G	7.37:g.31876892A>C	ENSP00000379494:p.Ser369Ala					PDE1C_uc003tcn.1_Missense_Mutation_p.S369A|PDE1C_uc003tco.1_Missense_Mutation_p.S429A|PDE1C_uc003tcr.2_Missense_Mutation_p.S369A|PDE1C_uc003tcs.2_Missense_Mutation_p.S369A	p.S369A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		11	1574	-			369			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1105T>G	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328526	0.60743	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.76	4.76	0.60689	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.80747	0.4682	L	0.36672	1.1	0.54753	D	0.999983	P;P;B	0.45078	0.47;0.85;0.252	P;P;B	0.58454	0.554;0.839;0.217	T	0.81459	-0.0923	10	0.49607	T	0.09	.	14.2555	0.66048	1.0:0.0:0.0:0.0	.	369;429;369	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	A	429;369;369;369;369	ENSP00000379496:S429A;ENSP00000379494:S369A;ENSP00000318105:S369A;ENSP00000379487:S369A;ENSP00000379485:S369A	ENSP00000318105:S369A	S	-	1	0	PDE1C	31843417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.224000	0.95209	1.902000	0.55061	0.496000	0.49642	TCC		0.423	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			23	32	0	0	0	0.012319	0	23	32				
TBX20	57057	broad.mit.edu	37	7	35271147	35271147	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:35271147G>T	ENST00000408931.3	-	6	1385	c.859C>A	c.(859-861)Cgg>Agg	p.R287R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	287					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R287R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GAGGAATCCCGGAATCCTTTG	0.378																																							uc011kas.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(859-861)CGG>AGG		T-box transcription factor TBX20							88.0	78.0	81.0					7																	35271147		2203	4300	6503	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35271147G>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.859C>A	7.37:g.35271147G>T							p.R287R	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			6	870	-			287			T-box.		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.859C>A	CCDS43568.1																																																																																				0.378	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		15	40	1	0	1.15088e-07	0.004007	1.96416e-07	15	40				
INHBA	3624	broad.mit.edu	37	7	41729798	41729798	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:41729798C>T	ENST00000242208.4	-	3	977	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.C244Y|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	244					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)	p.C244Y(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						GCACTGCTCACAGGCAATCCG	0.587										TSP Lung(11;0.080)																													uc003thq.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(730-732)TGT>TAT		inhibin beta A precursor							44.0	45.0	45.0					7																	41729798		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.chr7:41729798C>T		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.731G>A	7.37:g.41729798C>T	ENSP00000242208:p.Cys244Tyr	TSP Lung(11;0.080)				INHBA_uc003thr.2_Missense_Mutation_p.C244Y	p.C244Y	NM_002192	NP_002183	P08476	INHBA_HUMAN			2	966	-			244					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.731G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.867468	0.91587	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64438	-0.1;-0.1	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.417367	0.27991	N	0.017038	T	0.81508	0.4837	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81805	-0.0764	10	0.87932	D	0	-10.0268	20.6208	0.99490	0.0:1.0:0.0:0.0	.	244	P08476	INHBA_HUMAN	Y	244	ENSP00000242208:C244Y;ENSP00000397197:C244Y	ENSP00000242208:C244Y	C	-	2	0	INHBA	41696323	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	7.757000	0.85209	2.882000	0.98803	0.655000	0.94253	TGT		0.587	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			6	50	0	0	0	0.001984	0	6	50				
AGFG2	3268	broad.mit.edu	37	7	100151829	100151829	+	Silent	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:100151829C>T	ENST00000300176.4	+	5	821	c.699C>T	c.(697-699)ccC>ccT	p.P233P	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	233					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P233P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGAGACCCCTTTGCTGCAC	0.582																																							uc003uvf.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(697-699)CCC>CCT		ArfGAP with FG repeats 2							90.0	77.0	82.0					7																	100151829		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151829C>T	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.699C>T	7.37:g.100151829C>T						AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.P95L	p.P233P	NM_006076	NP_006067	O95081	AGFG2_HUMAN			5	835	+			233					O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.699C>T	CCDS5697.1																																																																																				0.582	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		21	33	0	0	0	0.008871	0	21	33				
ZNF800	168850	broad.mit.edu	37	7	127013680	127013680	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:127013680A>T	ENST00000393313.1	-	5	2301	c.1710T>A	c.(1708-1710)aaT>aaA	p.N570K	ZNF800_ENST00000265827.3_Missense_Mutation_p.N570K|ZNF800_ENST00000393312.1_Missense_Mutation_p.N570K|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N570K(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTGCCACTTTATTTAGAACAA	0.353																																							uc003vlx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1708-1710)AAT>AAA		zinc finger protein 800							88.0	91.0	90.0					7																	127013680		2202	4299	6501	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013680A>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1710T>A	7.37:g.127013680A>T	ENSP00000376989:p.Asn570Lys					ZNF800_uc003vlw.1_Missense_Mutation_p.N473K|ZNF800_uc003vly.1_Missense_Mutation_p.N570K|ZNF800_uc010lla.2_Missense_Mutation_p.N570K	p.N570K	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1973	-			570					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1710T>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518321	0.27211	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14893	2.47;2.47;2.47	5.7	4.56	0.56223	.	0.141135	0.64402	D	0.000006	T	0.07413	0.0187	N	0.08118	0	0.30791	N	0.74093	P;P	0.34662	0.462;0.462	B;B	0.27887	0.084;0.084	T	0.27400	-1.0075	8	.	.	.	-10.6163	10.1574	0.42831	0.9209:0.0:0.0791:0.0	.	473;570	B7Z4V7;Q2TB10	.;ZN800_HUMAN	K	570	ENSP00000376989:N570K;ENSP00000265827:N570K;ENSP00000376988:N570K	.	N	-	3	2	ZNF800	126800916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.019000	0.49635	1.005000	0.39183	0.533000	0.62120	AAT		0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		32	72	0	0	0	0.008361	0	32	72				
TNPO3	23534	broad.mit.edu	37	7	128655115	128655115	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:128655115C>A	ENST00000265388.5	-	4	613	c.470G>T	c.(469-471)cGt>cTt	p.R157L	TNPO3_ENST00000471166.1_Missense_Mutation_p.R157L|TNPO3_ENST00000482320.1_Missense_Mutation_p.R91L|TNPO3_ENST00000393245.1_Missense_Mutation_p.R157L|TNPO3_ENST00000471234.1_Missense_Mutation_p.R157L			Q9Y5L0	TNPO3_HUMAN	transportin 3	157					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.R157L(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCGTAAGGAACGACTATGTAC	0.378																																					Pancreas(147;583 2585 39696 52331)	Pancreas(147;583 2585 39696 52331)	uc003vol.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|lung(1)	5						c.(469-471)CGT>CTT		transportin 3							111.0	101.0	105.0					7																	128655115		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128655115C>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.470G>T	7.37:g.128655115C>A	ENSP00000265388:p.Arg157Leu					TNPO3_uc003vom.1_Missense_Mutation_p.R91L|TNPO3_uc010lly.1_Missense_Mutation_p.R157L|TNPO3_uc010llz.1_Missense_Mutation_p.R157L	p.R157L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			4	844	-			157					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.470G>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946534	0.92593	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.62	4.75	0.60458	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.79123	2.44	0.58432	D	0.999999	D;D;D	0.89917	0.989;1.0;0.962	P;D;P	0.81914	0.87;0.995;0.825	T	0.77104	-0.2711	10	0.21540	T	0.41	.	12.184	0.54227	0.0:0.917:0.0:0.083	.	157;157;157	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	L	157;157;91;157;157	ENSP00000376936:R157L;ENSP00000265388:R157L;ENSP00000420089:R91L;ENSP00000418646:R157L;ENSP00000418267:R157L	ENSP00000265388:R157L	R	-	2	0	TNPO3	128442351	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.772000	0.85439	1.370000	0.46153	0.591000	0.81541	CGT		0.378	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		11	76	1	0	2.27111e-07	0.013537	3.82503e-07	11	76				
TRPV6	55503	broad.mit.edu	37	7	142574906	142574906	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:142574906A>T	ENST00000359396.3	-	4	721	c.476T>A	c.(475-477)cTc>cAc	p.L159H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	159					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.L159H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AAAGTAGATGAGGTTGCAGGG	0.627																																							uc003wbx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(475-477)CTC>CAC		transient receptor potential cation channel,							66.0	57.0	60.0					7																	142574906		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142574906A>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.476T>A	7.37:g.142574906A>T	ENSP00000352358:p.Leu159His					TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.L30H	p.L159H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			4	692	-	Melanoma(164;0.059)		159			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.476T>A	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	A	9.696	1.153271	0.21371	.	.	ENSG00000165125	ENST00000359396	T	0.54479	0.57	3.86	1.35	0.21983	Ankyrin repeat-containing domain (3);	0.127744	0.53938	D	0.000046	T	0.42630	0.1211	M	0.63843	1.955	0.80722	D	1	B	0.19200	0.034	B	0.21917	0.037	T	0.13953	-1.0490	10	0.17369	T	0.5	-12.4575	6.241	0.20791	0.6738:0.1667:0.0:0.1595	.	159	Q9H1D0	TRPV6_HUMAN	H	159	ENSP00000352358:L159H	ENSP00000352358:L159H	L	-	2	0	TRPV6	142285028	1.000000	0.71417	0.978000	0.43139	0.304000	0.27724	4.099000	0.57755	0.085000	0.17107	0.533000	0.62120	CTC		0.627	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		11	44	0	0	0	0.010729	0	11	44				
MYOM2	9172	broad.mit.edu	37	8	2037867	2037867	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:2037867G>T	ENST00000262113.4	+	15	1822	c.1681G>T	c.(1681-1683)Gcc>Tcc	p.A561S	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	561	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.A561S(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGAGTCAACGCCCAGACGGC	0.577																																							uc003wpx.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1681-1683)GCC>TCC		myomesin 2							105.0	91.0	96.0					8																	2037867		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2037867G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1681G>T	8.37:g.2037867G>T	ENSP00000262113:p.Ala561Ser					MYOM2_uc011kwi.1_5'UTR	p.A561S	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	1819	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	561			Fibronectin type-III 2.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1681G>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	3.703	-0.061055	0.07317	.	.	ENSG00000036448	ENST00000262113	T	0.49432	0.78	5.74	4.79	0.61399	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.190257	0.46442	D	0.000286	T	0.25827	0.0629	N	0.02315	-0.6	0.80722	D	1	B	0.25272	0.122	B	0.32762	0.152	T	0.14035	-1.0487	10	0.10636	T	0.68	.	16.7224	0.85413	0.0:0.0:0.8447:0.1553	.	561	P54296	MYOM2_HUMAN	S	561	ENSP00000262113:A561S	ENSP00000262113:A561S	A	+	1	0	MYOM2	2025274	1.000000	0.71417	0.860000	0.33809	0.016000	0.09150	3.383000	0.52471	2.710000	0.92621	0.563000	0.77884	GCC		0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		28	57	1	0	3.73148e-12	0.007291	6.82327e-12	28	57				
PXDNL	137902	broad.mit.edu	37	8	52323848	52323848	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:52323848C>G	ENST00000356297.4	-	16	2124	c.2024G>C	c.(2023-2025)cGt>cCt	p.R675P	PXDNL_ENST00000543296.1_Missense_Mutation_p.R675P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	675					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R675P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGCTTCACACGTTCCCGTAT	0.517																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2023-2025)CGT>CCT		peroxidasin homolog-like precursor							58.0	59.0	59.0					8																	52323848		2010	4180	6190	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52323848C>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2024G>C	8.37:g.52323848C>G	ENSP00000348645:p.Arg675Pro					PXDNL_uc003xqt.3_5'Flank	p.R675P	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			16	2125	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	675					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2024G>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244520	0.22796	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66099	-0.16;-0.19	4.46	-0.596	0.11657	.	.	.	.	.	T	0.38401	0.1039	N	0.14661	0.345	0.09310	N	1	P	0.40083	0.702	B	0.37780	0.258	T	0.26087	-1.0113	9	0.72032	D	0.01	.	3.1917	0.06619	0.3468:0.1426:0.0:0.5106	.	675	A1KZ92	PXDNL_HUMAN	P	675	ENSP00000348645:R675P;ENSP00000444865:R675P	ENSP00000348645:R675P	R	-	2	0	PXDNL	52486401	0.996000	0.38824	0.001000	0.08648	0.076000	0.17211	2.699000	0.47077	-0.405000	0.07599	-0.150000	0.13652	CGT		0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	30	0	0	0	0.00308	0	8	30				
TRPA1	8989	broad.mit.edu	37	8	72975784	72975784	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:72975784C>G	ENST00000262209.4	-	5	782	c.575G>C	c.(574-576)tGt>tCt	p.C192S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	192					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.C192S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTGATTTACATGGCTTAGC	0.383																																							uc003xza.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(574-576)TGT>TCT		ankyrin-like protein 1	Menthol(DB00825)						92.0	90.0	91.0					8																	72975784		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72975784C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.575G>C	8.37:g.72975784C>G	ENSP00000262209:p.Cys192Ser						p.C192S	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		5	750	-			192			Cytoplasmic (Potential).|ANK 4.		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.575G>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291790	0.80914	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.63580	-0.05;-0.03	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.50333	1.59	0.80722	D	1	D	0.54207	0.965	P	0.57960	0.83	T	0.61028	-0.7145	10	0.09338	T	0.73	-17.3396	19.6113	0.95607	0.0:1.0:0.0:0.0	.	192	O75762	TRPA1_HUMAN	S	44;192	ENSP00000428151:C44S;ENSP00000262209:C192S	ENSP00000262209:C192S	C	-	2	0	TRPA1	73138338	1.000000	0.71417	0.413000	0.26509	0.895000	0.52256	6.385000	0.73182	2.800000	0.96347	0.650000	0.86243	TGT		0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		35	89	0	0	0	0.006999	0	35	89				
LRP12	29967	broad.mit.edu	37	8	105521219	105521219	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:105521219T>A	ENST00000276654.5	-	3	328	c.220A>T	c.(220-222)Atc>Ttc	p.I74F	LRP12_ENST00000424843.2_Missense_Mutation_p.I55F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	74	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.I74F(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACAGTTGATTTTTGCAGGA	0.398																																							uc003yma.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(220-222)ATC>TTC		low density lipoprotein-related protein 12							150.0	144.0	146.0					8																	105521219		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105521219T>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.220A>T	8.37:g.105521219T>A	ENSP00000276654:p.Ile74Phe					LRP12_uc003ymb.2_Missense_Mutation_p.I55F|LRP12_uc003ymc.3_Missense_Mutation_p.I55F	p.I74F	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	315	-			74			Extracellular (Potential).|CUB 1.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.220A>T	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735997	0.49045	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	T;T	0.28454	1.61;1.61	5.44	1.51	0.23008	CUB (5);	0.291795	0.35708	N	0.003026	T	0.28830	0.0715	L	0.60455	1.87	0.80722	D	1	B;B;B	0.27286	0.174;0.009;0.011	B;B;B	0.33568	0.166;0.022;0.038	T	0.05886	-1.0858	10	0.52906	T	0.07	-3.2982	6.2392	0.20780	0.0:0.1357:0.2497:0.6146	.	55;55;74	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	F	55;74;74	ENSP00000399148:I55F;ENSP00000276654:I74F	ENSP00000276654:I74F	I	-	1	0	LRP12	105590395	0.984000	0.35163	0.713000	0.30519	0.995000	0.86356	1.508000	0.35769	0.077000	0.16863	0.459000	0.35465	ATC		0.398	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		6	231	0	0	0	0.001984	0	6	231				
CSMD3	114788	broad.mit.edu	37	8	113237150	113237150	+	Silent	SNP	A	A	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:113237150A>T	ENST00000297405.5	-	71	11218	c.10974T>A	c.(10972-10974)ccT>ccA	p.P3658P	CSMD3_ENST00000455883.2_Silent_p.P3489P|CSMD3_ENST00000352409.3_Silent_p.P3588P|CSMD3_ENST00000343508.3_Silent_p.P3618P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3658						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3618P(1)|p.P3658P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGTGTTTTAGGTGCAGTCC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10972-10974)CCT>CCA		CUB and Sushi multiple domains 3 isoform 1							279.0	256.0	264.0					8																	113237150		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113237150A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10974T>A	8.37:g.113237150A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2860P|CSMD3_uc003ynt.2_Silent_p.P3618P|CSMD3_uc011lhx.1_Silent_p.P3489P	p.P3658P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			71	11133	-			3658			Cytoplasmic (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10974T>A	CCDS6315.1																																																																																				0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	242	0	0	0	0.014323	0	21	242				
TRPS1	7227	broad.mit.edu	37	8	116426992	116426992	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:116426992C>A	ENST00000220888.5	-	6	3264	c.3105G>T	c.(3103-3105)ttG>ttT	p.L1035F	TRPS1_ENST00000519076.1_Missense_Mutation_p.L789F|TRPS1_ENST00000395715.3_Missense_Mutation_p.L1048F|TRPS1_ENST00000520276.1_Missense_Mutation_p.L1039F			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1035	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L1035F(1)|p.L1048F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTGAATGTGCAAAGGTTGCA	0.448									Langer-Giedion syndrome																														uc003ynz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3103-3105)TTG>TTT		zinc finger transcription factor TRPS1							140.0	132.0	134.0					8																	116426992		1895	4117	6012	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426992C>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3105G>T	8.37:g.116426992C>A	ENSP00000220888:p.Leu1035Phe					TRPS1_uc011lhy.1_Missense_Mutation_p.L1039F|TRPS1_uc003yny.2_Missense_Mutation_p.L1048F|TRPS1_uc010mcy.2_Missense_Mutation_p.L1035F	p.L1035F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3564	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1035			Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3105G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.199781|3.199781	0.58126|0.58126	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.98807	.|-5.15;-5.12;-5.08;-5.12	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.98337|0.98337	0.9448|0.9448	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.999;0.997;0.999	D|D	0.99938|0.99938	1.1376|1.1376	5|10	.|0.87932	.|D	.|0	.|.	19.6491|19.6491	0.95794|0.95794	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1039;1035;1048	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	S|F	160|1048;1035;789;1039	.|ENSP00000379065:L1048F;ENSP00000220888:L1035F;ENSP00000428910:L789F;ENSP00000428680:L1039F	.|ENSP00000220888:L1035F	A|L	-|-	1|3	0|2	TRPS1|TRPS1	116496168|116496168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.185000|4.185000	0.58330|0.58330	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GCA|TTG		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		127	150	1	0	9.50027e-55	0.01441	2.21097e-54	127	150				
PTK2	5747	broad.mit.edu	37	8	141745432	141745432	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:141745432T>C	ENST00000522684.1	-	22	2177	c.1948A>G	c.(1948-1950)Acc>Gcc	p.T650A	PTK2_ENST00000521059.1_Missense_Mutation_p.T650A|PTK2_ENST00000519419.1_Missense_Mutation_p.T694A|PTK2_ENST00000517887.1_Missense_Mutation_p.T694A|PTK2_ENST00000535192.1_Missense_Mutation_p.T650A|PTK2_ENST00000395218.2_Missense_Mutation_p.T650A|PTK2_ENST00000538769.1_Missense_Mutation_p.T318A|MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000519465.1_Missense_Mutation_p.T278A|PTK2_ENST00000340930.3_Missense_Mutation_p.T650A	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.T650A(1)|p.T602A(1)|p.T672A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGTAGAGGGTAGGAGGACAA	0.488																																							uc003yvu.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1948-1950)ACC>GCC		PTK2 protein tyrosine kinase 2 isoform a							138.0	111.0	120.0					8																	141745432		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141745432T>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1948A>G	8.37:g.141745432T>C	ENSP00000429911:p.Thr650Ala					PTK2_uc003yvo.2_Missense_Mutation_p.T278A|PTK2_uc011ljq.1_Missense_Mutation_p.T345A|PTK2_uc003yvp.2_Missense_Mutation_p.T318A|PTK2_uc003yvq.2_Missense_Mutation_p.T176A|PTK2_uc003yvr.2_Missense_Mutation_p.T590A|PTK2_uc003yvs.2_Missense_Mutation_p.T650A|PTK2_uc003yvt.2_Missense_Mutation_p.T672A|PTK2_uc003yvv.2_Missense_Mutation_p.T550A|PTK2_uc011ljr.1_Missense_Mutation_p.T650A|MIR151_hsa-mir-151|MI0000809_5'Flank	p.T650A	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		22	2178	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	650			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1948A>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.58|17.58	3.424693|3.424693	0.62733|0.62733	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.82255|.	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33440|0.33440	0.0863|0.0863	N|N	0.02685|0.02685	-0.53|-0.53	0.58432|0.58432	D|D	0.999999|0.999999	P;B;B;P;B;P;B;B;B;B|.	0.45986|.	0.87;0.087;0.036;0.845;0.008;0.811;0.036;0.094;0.017;0.007|.	P;B;B;B;B;B;B;B;B;B|.	0.47346|.	0.544;0.096;0.029;0.435;0.019;0.357;0.029;0.108;0.029;0.012|.	T|T	0.32455|0.32455	-0.9906|-0.9906	10|5	0.18710|.	T|.	0.47|.	.|.	15.6208|15.6208	0.76805|0.76805	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	650;345;570;650;672;650;602;498;318;278|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	A|C	650;650;278;694;650;602;650;571;345;322;650;318;694;348;496|660	ENSP00000429911:T650A;ENSP00000438009:T650A;ENSP00000429170:T278A;ENSP00000429082:T694A;ENSP00000429474:T650A;ENSP00000378644:T650A;ENSP00000428492:T322A;ENSP00000341189:T650A;ENSP00000445742:T318A;ENSP00000429129:T694A;ENSP00000430603:T348A|.	ENSP00000341189:T650A|.	T|Y	-|-	1|2	0|0	PTK2|PTK2	141814614|141814614	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	7.810000|7.810000	0.86072|0.86072	2.098000|2.098000	0.63641|0.63641	0.533000|0.533000	0.62120|0.62120	ACC|TAC		0.488	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		52	53	0	0	0	0.01441	0	52	53				
CYP11B2	1585	broad.mit.edu	37	8	143996585	143996585	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr8:143996585G>T	ENST00000323110.2	-	3	474	c.472C>A	c.(472-474)Ctc>Atc	p.L158I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	158					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L158I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ACCATCGGGAGGAACCTCTGC	0.637									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CTC>ATC		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						55.0	47.0	50.0					8																	143996585		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996585G>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.472C>A	8.37:g.143996585G>T	ENSP00000325822:p.Leu158Ile						p.L158I	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	475	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		158					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.472C>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	6.417	0.445006	0.12164	.	.	ENSG00000179142	ENST00000323110	T	0.68624	-0.34	3.44	-4.53	0.03462	.	1.042200	0.07600	N	0.923552	T	0.38453	0.1041	N	0.11341	0.13	0.09310	N	1	B	0.17038	0.02	B	0.23150	0.044	T	0.22452	-1.0216	10	0.14252	T	0.57	.	4.4347	0.11545	0.1307:0.1006:0.5602:0.2086	.	158	P19099	C11B2_HUMAN	I	158	ENSP00000325822:L158I	ENSP00000325822:L158I	L	-	1	0	CYP11B2	143993587	0.583000	0.26757	0.000000	0.03702	0.007000	0.05969	-0.447000	0.06828	-1.089000	0.03073	-0.310000	0.09108	CTC		0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			13	38	1	0	7.93312e-07	0.00245	1.30185e-06	13	38				
CNTFR	1271	broad.mit.edu	37	9	34557978	34557978	+	Silent	SNP	C	C	T	rs201618123	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:34557978C>T	ENST00000378980.3	-	5	617	c.324G>A	c.(322-324)ccG>ccA	p.P108P	CNTFR_ENST00000351266.4_Silent_p.P108P	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	108	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.P108P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCTCCCGCGGCGGCACTGGGG	0.642													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15823	0.0		0.0	False		,,,				2504	0.0						uc003zup.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(322-324)CCG>CCA		ciliary neurotrophic factor receptor							64.0	75.0	71.0					9																	34557978		2203	4300	6503	SO:0001819	synonymous_variant	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34557978C>T	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.324G>A	9.37:g.34557978C>T						CNTFR_uc003zuq.1_Silent_p.P108P	p.P108P	NM_147164	NP_671693	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	5	605	-	all_epithelial(49;0.0899)		108			Fibronectin type-III 1.		Q5U050	Silent	SNP	ENST00000378980.3	37	c.324G>A	CCDS6558.1																																																																																				0.642	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1			17	101	0	0	0	0.006122	0	17	101				
Unknown	0	broad.mit.edu	37	9	40503105	40503105	+	IGR	SNP	G	G	C	rs201003096		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:40503105G>C								AL353791.1 (470688 upstream) : RN7SL422P (13700 downstream)																							ACCTGCGTGTGGAGGAGCTCG	0.488																																							uc004abr.1		NA																	0					NA						c.(577-579)CAC>GAC		RecName: Full=Contactin-associated protein-like 3B; AltName: Full=Cell recognition molecule Caspr3b; Flags: Precursor;																																				SO:0001628	intergenic_variant	0							g.chr9:40503105G>C																													9.37:g.40503105G>C							p.H193D							6	820	-									Missense_Mutation	SNP		37	c.577C>G																																																																																				0	0.488									13	24	0	0	0	0.00245	0	13	24				
DFNB31	25861	broad.mit.edu	37	9	117165060	117165060	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:117165060C>A	ENST00000362057.3	-	12	2866	c.2698G>T	c.(2698-2700)Gtc>Ttc	p.V900F	DFNB31_ENST00000374059.3_Missense_Mutation_p.V549F|DFNB31_ENST00000265134.6_Missense_Mutation_p.V517F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	900					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.V900F(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACTCAGTGACCAGAAAGTCA	0.592																																							uc004biz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2698-2700)GTC>TTC		CASK-interacting protein CIP98 isoform 1							87.0	82.0	84.0					9																	117165060		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117165060C>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2698G>T	9.37:g.117165060C>A	ENSP00000354623:p.Val900Phe					DFNB31_uc004bix.2_Missense_Mutation_p.V549F|DFNB31_uc004biy.3_Missense_Mutation_p.V517F|DFNB31_uc004bja.3_Missense_Mutation_p.V899F	p.V900F	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			12	3347	-			900					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.2698G>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.278518	0.80692	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.18174	3.3;3.25;2.23	4.69	4.69	0.59074	PDZ/DHR/GLGF (2);	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.79784	0.953;0.953;0.993	T	0.35871	-0.9771	10	0.87932	D	0	-33.022	17.9846	0.89152	0.0:1.0:0.0:0.0	.	899;900;549	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	F	517;549;900	ENSP00000265134:V517F;ENSP00000363172:V549F;ENSP00000354623:V900F	ENSP00000265134:V517F	V	-	1	0	DFNB31	116204881	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.142000	0.64820	2.293000	0.77203	0.651000	0.88453	GTC		0.592	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		38	63	1	0	9.80977e-26	0.004289	2.04171e-25	38	63				
AGPAT2	10555	broad.mit.edu	37	9	139571431	139571431	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr9:139571431C>G	ENST00000371696.2	-	3	539	c.474G>C	c.(472-474)gaG>gaC	p.E158D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.E158D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.E158D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	158					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.E158D(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGACCATGCGCTCGCCCAGGT	0.667																																							uc004cii.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GAG>GAC		1-acylglycerol-3-phosphate O-acyltransferase 2							55.0	58.0	57.0					9																	139571431		2203	4300	6503	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571431C>G	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.474G>C	9.37:g.139571431C>G	ENSP00000360761:p.Glu158Asp					AGPAT2_uc004cij.1_Missense_Mutation_p.E158D	p.E158D	NM_006412	NP_006403	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	576	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	158					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.474G>C	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	8.483	0.860212	0.17178	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.94138	-3.36;-3.36;-3.36	4.75	2.81	0.32909	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.392230	0.27764	N	0.017960	D	0.85195	0.5641	N	0.10972	0.075	0.27770	N	0.943538	B;B	0.10296	0.003;0.002	B;B	0.14578	0.011;0.006	T	0.69154	-0.5220	10	0.21014	T	0.42	-3.833	15.4031	0.74858	0.0:0.583:0.417:0.0	.	158;158	O15120-2;O15120	.;PLCB_HUMAN	D	158	ENSP00000360759:E158D;ENSP00000360761:E158D;ENSP00000438919:E158D	ENSP00000360759:E158D	E	-	3	2	AGPAT2	138691252	0.997000	0.39634	0.968000	0.41197	0.456000	0.32438	0.653000	0.24902	0.379000	0.24794	0.655000	0.94253	GAG		0.667	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		8	90	0	0	0	0.00308	0	8	90				
AMER1	139285	broad.mit.edu	37	X	63411180	63411180	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:63411180C>T	ENST00000330258.3	-	2	2259	c.1987G>A	c.(1987-1989)Gtg>Atg	p.V663M	AMER1_ENST00000403336.1_Missense_Mutation_p.V663M|AMER1_ENST00000374869.3_Missense_Mutation_p.V663M	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	663					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.V663M(2)									AGGCCCATCACTGATGGGCCT	0.597																																							uc004dvo.2		NA																	69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1987-1989)GTG>ATG		family with sequence similarity 123B							27.0	28.0	28.0					X																	63411180		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411180C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1987G>A	X.37:g.63411180C>T	ENSP00000329117:p.Val663Met						p.V663M	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	2260	-			663					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1987G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691477	0.48097	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.50548	0.77;0.74;0.77	5.21	4.35	0.52113	.	0.141481	0.33916	N	0.004422	T	0.57621	0.2066	L	0.51422	1.61	0.32744	N	0.50734	D	0.67145	0.996	P	0.61800	0.894	T	0.67673	-0.5610	10	0.72032	D	0.01	-15.2622	12.1754	0.54182	0.0:0.9102:0.0:0.0898	.	663	Q5JTC6	F123B_HUMAN	M	663	ENSP00000364003:V663M;ENSP00000329117:V663M;ENSP00000384722:V663M	ENSP00000329117:V663M	V	-	1	0	FAM123B	63327905	0.998000	0.40836	1.000000	0.80357	0.855000	0.48748	1.724000	0.38064	2.574000	0.86865	0.600000	0.82982	GTG		0.597	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		5	49	0	0	0	0.000602	0	5	49				
AWAT2	158835	broad.mit.edu	37	X	69261742	69261742	+	Silent	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:69261742G>T	ENST00000276101.3	-	7	923	c.918C>A	c.(916-918)ctC>ctA	p.L306L		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	306					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.L306L(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CATCAATATAGAGTGTGTGAT	0.483																																					NSCLC(80;1334 1436 9350 24214 26427)	NSCLC(80;1334 1436 9350 24214 26427)	uc004dxt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(916-918)CTC>CTA		wax synthase 2							159.0	123.0	135.0					X																	69261742		2203	4300	6503	SO:0001819	synonymous_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69261742G>T	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.918C>A	X.37:g.69261742G>T							p.L306L	NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN			7	924	-			306					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.918C>A	CCDS35320.1																																																																																				0.483	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		41	90	1	0	6.2361e-21	0.007835	1.23755e-20	41	90				
MED12	9968	broad.mit.edu	37	X	70347271	70347271	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:70347271T>C	ENST00000374080.3	+	21	2967	c.2935T>C	c.(2935-2937)Tac>Cac	p.Y979H	MED12_ENST00000333646.6_Missense_Mutation_p.Y979H|MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.Y979H			Q93074	MED12_HUMAN	mediator complex subunit 12	979					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Y979H(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTATGATCTGTACACCTCCTG	0.517			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2935-2937)TAC>CAC		mediator complex subunit 12							84.0	82.0	83.0					X																	70347271		2006	4138	6144	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70347271T>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2935T>C	X.37:g.70347271T>C	ENSP00000363193:p.Tyr979His					MED12_uc011mpq.1_Missense_Mutation_p.Y979H|MED12_uc004dyz.2_Missense_Mutation_p.Y979H|MED12_uc004dza.2_Missense_Mutation_p.Y826H|MED12_uc010nla.2_5'Flank	p.Y979H	NM_005120	NP_005111	Q93074	MED12_HUMAN			21	3134	+	Renal(35;0.156)		979					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2935T>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.279322	0.80692	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.89044	0.6603	M	0.64567	1.98	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.999	D	0.88796	0.3281	10	0.44086	T	0.13	-11.3523	13.8889	0.63726	0.0:0.0:0.0:1.0	.	979;826;979;979	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	H	979;979;979;979;947	ENSP00000333125:Y979H;ENSP00000363215:Y979H;ENSP00000363193:Y979H;ENSP00000414203:Y947H	ENSP00000333125:Y979H	Y	+	1	0	MED12	70263996	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	1.853000	0.53794	0.430000	0.28490	TAC		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	112	0	0	0	0.001984	0	7	112				
RGAG4	340526	broad.mit.edu	37	X	71349706	71349706	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:71349706G>T	ENST00000545866.1	-	1	2052	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.A562D	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	562								p.A635D(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCCACGAGCAGCTCGGTGGCC	0.612																																							uc010nlh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1684-1686)GCT>GAT		retrotransposon gag domain containing 4							25.0	30.0	28.0					X																	71349706		1913	4119	6032	SO:0001583	missense	340526							g.chrX:71349706G>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1685C>A	X.37:g.71349706G>T	ENSP00000441366:p.Ala562Asp					NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	p.A562D	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	2046	-	Renal(35;0.156)		562					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1685C>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153107	0.38021	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.24723	1.84;1.84	4.05	3.18	0.36537	.	.	.	.	.	T	0.29093	0.0723	N	0.19112	0.55	0.09310	N	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.07252	-1.0782	8	.	.	.	-3.992	6.583	0.22605	0.1312:0.0:0.8688:0.0	.	562	Q5HYW3	RGAG4_HUMAN	D	562	ENSP00000441366:A562D;ENSP00000418667:A562D	.	A	-	2	0	RGAG4	71266431	0.809000	0.29036	0.221000	0.23827	0.947000	0.59692	2.295000	0.43576	1.070000	0.40811	0.292000	0.19580	GCT		0.612	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		25	48	1	0	1.64293e-13	0.00333	3.11549e-13	25	48				
FAM46D	169966	broad.mit.edu	37	X	79698296	79698296	+	Silent	SNP	T	T	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:79698296T>A	ENST00000308293.5	+	3	497	c.258T>A	c.(256-258)atT>atA	p.I86I	FAM46D_ENST00000538312.1_Silent_p.I86I	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	86								p.I86I(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGGACGTTATTTTTGGTGTTG	0.378																																							uc004edl.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(256-258)ATT>ATA		hypothetical protein LOC169966							106.0	97.0	100.0					X																	79698296		2202	4298	6500	SO:0001819	synonymous_variant	169966							g.chrX:79698296T>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.258T>A	X.37:g.79698296T>A						FAM46D_uc004edm.1_Silent_p.I86I	p.I86I	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN			5	592	+			86					B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	c.258T>A	CCDS14446.1																																																																																				0.378	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		52	100	0	0	0	0.01441	0	52	100				
PCDH19	57526	broad.mit.edu	37	X	99661991	99661991	+	Silent	SNP	G	G	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:99661991G>A	ENST00000373034.4	-	1	3280	c.1605C>T	c.(1603-1605)gcC>gcT	p.A535A	PCDH19_ENST00000255531.7_Silent_p.A535A|PCDH19_ENST00000420881.2_Silent_p.A535A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A535A(1)|p.A36A(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCCGTCCTTGGCCAGCACCT	0.572																																							uc010nmz.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1603-1605)GCC>GCT		protocadherin 19 isoform b							124.0	124.0	124.0					X																	99661991		2172	4255	6427	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661991G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1605C>T	X.37:g.99661991G>A						PCDH19_uc004efw.3_Silent_p.A535A|PCDH19_uc004efx.3_Silent_p.A535A	p.A535A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3281	-			535			Cadherin 5.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.1605C>T	CCDS55462.1																																																																																				0.572	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		98	160	0	0	0	0.01441	0	98	160				
GUCY2F	2986	broad.mit.edu	37	X	108638636	108638636	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:108638636C>A	ENST00000218006.2	-	12	2649	c.2358G>T	c.(2356-2358)caG>caT	p.Q786H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	786	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.Q786H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTTCATCAGCTGGAGACATT	0.478																																							uc004eod.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|breast(3)|central_nervous_system(1)	8						c.(2356-2358)CAG>CAT		guanylate cyclase 2F precursor							188.0	163.0	172.0					X																	108638636		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108638636C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2358G>T	X.37:g.108638636C>A	ENSP00000218006:p.Gln786His					GUCY2F_uc011msq.1_RNA	p.Q786H	NM_001522	NP_001513	P51841	GUC2F_HUMAN			12	2634	-			786			Protein kinase.|Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2358G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360150	0.41801	.	.	ENSG00000101890	ENST00000218006	T	0.62364	0.03	4.14	4.14	0.48551	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.122257	0.56097	D	0.000025	T	0.49795	0.1578	L	0.40543	1.245	0.48696	D	0.999696	B	0.20052	0.041	B	0.27608	0.081	T	0.46992	-0.9151	10	0.33141	T	0.24	.	6.8721	0.24127	0.0:0.8767:0.0:0.1233	.	786	P51841	GUC2F_HUMAN	H	786	ENSP00000218006:Q786H	ENSP00000218006:Q786H	Q	-	3	2	GUCY2F	108525292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.299000	0.33424	2.300000	0.77407	0.506000	0.49869	CAG		0.478	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		112	179	1	0	2.2063e-47	0.01441	5.0884e-47	112	179				
TRPC5	7224	broad.mit.edu	37	X	111097166	111097166	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:111097166C>A	ENST00000262839.2	-	4	1987	c.1069G>T	c.(1069-1071)Ggg>Tgg	p.G357W		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	357					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.G357W(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGAACAGCCCAAGGTTGCTC	0.478																																							uc004epl.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(1069-1071)GGG>TGG		transient receptor potential cation channel,							103.0	92.0	95.0					X																	111097166		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097166C>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1069G>T	X.37:g.111097166C>A	ENSP00000262839:p.Gly357Trp					TRPC5_uc004epm.1_Missense_Mutation_p.G357W	p.G357W	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			4	1988	-			357			Extracellular (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1069G>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877018	0.72180	.	.	ENSG00000072315	ENST00000262839	D	0.85484	-1.99	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.95793	0.8826	10	0.87932	D	0	-25.1059	17.3322	0.87268	0.0:1.0:0.0:0.0	.	358;357	Q59G51;Q9UL62	.;TRPC5_HUMAN	W	357	ENSP00000262839:G357W	ENSP00000262839:G357W	G	-	1	0	TRPC5	110983822	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.853000	0.69496	2.363000	0.80096	0.600000	0.82982	GGG		0.478	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		51	87	1	0	3.68337e-26	0.01441	7.72904e-26	51	87				
BCORL1	63035	broad.mit.edu	37	X	129148663	129148663	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:129148663C>A	ENST00000218147.7	+	4	2112	c.1915C>A	c.(1915-1917)Cgc>Agc	p.R639S	BCORL1_ENST00000540052.1_Missense_Mutation_p.R639S|BCORL1_ENST00000303743.5_Missense_Mutation_p.R639S|BCORL1_ENST00000359304.2_Missense_Mutation_p.R639S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	639	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R639S(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGAACCAGCGCAAGACACC	0.612																																							uc004evb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(1915-1917)CGC>AGC		BCL6 co-repressor-like 1							105.0	85.0	92.0					X																	129148663		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148663C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1915C>A	X.37:g.129148663C>A	ENSP00000218147:p.Arg639Ser					BCORL1_uc010nrd.1_Missense_Mutation_p.R541S	p.R639S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2029	+			639			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1915C>A	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.99|15.99	2.995408|2.995408	0.54147|0.54147	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.68181	.|-0.24;0.22;-0.31;-0.24;0.31	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.37095	.|N	.|0.002256	T|T	0.72053|0.72053	0.3413|0.3413	L|L	0.27053|0.27053	0.805|0.805	0.43971|0.43971	D|D	0.996657|0.996657	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.81914	.|0.994;0.995	T|T	0.68538|0.68538	-0.5382|-0.5382	5|10	.|0.22109	.|T	.|0.4	-11.2942|-11.2942	18.3045|18.3045	0.90176|0.90176	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|639;639	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	E|S	74|639;639;639;639;239	.|ENSP00000218147:R639S;ENSP00000307541:R639S;ENSP00000352253:R639S;ENSP00000437775:R639S;ENSP00000399483:R239S	.|ENSP00000218147:R639S	A|R	+|+	2|1	0|0	BCORL1|BCORL1	128976344|128976344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.325000|5.325000	0.65869|0.65869	2.262000|2.262000	0.75019|0.75019	0.436000|0.436000	0.28706|0.28706	GCG|CGC		0.612	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		21	111	1	0	1.28384e-07	0.012319	2.17657e-07	21	111				
MAGEC1	9947	broad.mit.edu	37	X	140994335	140994335	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:140994335C>G	ENST00000285879.4	+	4	1431	c.1145C>G	c.(1144-1146)tCc>tGc	p.S382C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	382								p.S382C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTTCTCCTCCACTTTA	0.483										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1144-1146)TCC>TGC		melanoma antigen family C, 1							104.0	110.0	108.0					X																	140994335		2199	4291	6490	SO:0001583	missense	9947						protein binding	g.chrX:140994335C>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1145C>G	X.37:g.140994335C>G	ENSP00000285879:p.Ser382Cys	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.S382C	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	1431	+	Acute lymphoblastic leukemia(192;6.56e-05)		382					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1145C>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	2.825	-0.243964	0.05906	.	.	ENSG00000155495	ENST00000285879	T	0.04015	3.73	.	.	.	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43782	-0.9370	8	0.87932	D	0	.	3.6706	0.08272	2.0E-4:0.5073:0.4924:2.0E-4	.	382	O60732	MAGC1_HUMAN	C	382	ENSP00000285879:S382C	ENSP00000285879:S382C	S	+	2	0	MAGEC1	140822001	0.000000	0.05858	0.019000	0.16419	0.019000	0.09904	-0.026000	0.12392	0.148000	0.19059	0.150000	0.16122	TCC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		75	369	0	0	0	0.01441	0	75	369				
MAGEC2	51438	broad.mit.edu	37	X	141290894	141290894	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:141290894G>T	ENST00000247452.3	-	3	1227	c.880C>A	c.(880-882)Cct>Act	p.P294T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	294	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.P294T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TAATATGGAGGAGAACTGTGG	0.502										HNSCC(46;0.14)																													uc004fbu.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(880-882)CCT>ACT		melanoma antigen family C, 2							82.0	83.0	83.0					X																	141290894		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290894G>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.880C>A	X.37:g.141290894G>T	ENSP00000354660:p.Pro294Thr	HNSCC(46;0.14)					p.P294T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1228	-	Acute lymphoblastic leukemia(192;6.56e-05)		294			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.880C>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	11.06	1.527528	0.27299	.	.	ENSG00000046774	ENST00000247452	T	0.05996	3.36	0.988	0.988	0.19796	.	0.000000	0.85682	U	0.000000	T	0.26011	0.0634	M	0.93150	3.385	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.03354	-1.1045	10	0.87932	D	0	.	4.9988	0.14253	0.0:0.0:1.0:0.0	.	294	Q9UBF1	MAGC2_HUMAN	T	294	ENSP00000354660:P294T	ENSP00000354660:P294T	P	-	1	0	MAGEC2	141118560	0.600000	0.26899	0.024000	0.17045	0.155000	0.21991	2.297000	0.43593	0.770000	0.33336	0.284000	0.19432	CCT		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		19	184	1	0	2.39187e-15	0.008871	4.63878e-15	19	184				
MAMLD1	10046	broad.mit.edu	37	X	149638271	149638271	+	Silent	SNP	C	C	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chrX:149638271C>A	ENST00000370401.2	+	4	736	c.426C>A	c.(424-426)ggC>ggA	p.G142G	MAMLD1_ENST00000432680.2_Silent_p.G117G|MAMLD1_ENST00000426613.2_Silent_p.G117G|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Silent_p.G142G			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	142					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G142G(1)|p.G117G(1)|p.G69G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACATCATGGGCTCACCATTTG	0.507																																							uc004fee.1		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(424-426)GGC>GGA		mastermind-like domain containing 1							85.0	76.0	79.0					X																	149638271		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638271C>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.426C>A	X.37:g.149638271C>A						MAMLD1_uc011mxt.1_Silent_p.G104G|MAMLD1_uc011mxu.1_Silent_p.G117G|MAMLD1_uc011mxv.1_Silent_p.G117G|MAMLD1_uc011mxw.1_Silent_p.G69G	p.G142G	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	502	+	Acute lymphoblastic leukemia(192;6.56e-05)		142					B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.426C>A	CCDS14693.2																																																																																				0.507	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		60	121	1	0	5.47352e-35	0.01441	1.20795e-34	60	121				
DOCK1	1793	broad.mit.edu	37	10	129172131	129172134	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	GTAA	GTAA	-	-	GTAA	GTAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr10:129172131_129172134delGTAA	ENST00000280333.6	+	34	3564		c.e34+1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTGATAAAATGTAAGTGTTGATTA	0.358																																							uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.e34+1		dedicator of cytokinesis 1																																				SO:0001630	splice_region_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129172131_129172134delGTAA	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3455+1GTAA>-	10.37:g.129172131_129172134delGTAA						DOCK1_uc010qun.1_Splice_Site_p.I1173_splice|DOCK1_uc009yaq.2_Splice_Site_p.I147_splice	p.I1152_splice	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	34	3519	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)						A9Z1Z5	Splice_Site	DEL	ENST00000280333.6	37	c.3455_splice																																																																																					0.358	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	Intron	8	22	NA	NA	NA	NA	NA	8	22	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47819339	47819340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr11:47819339_47819340insA	ENST00000378460.2	-	27	3326_3327	c.3280_3281insT	c.(3280-3282)tacfs	p.Y1094fs	NUP160_ENST00000528071.1_Frame_Shift_Ins_p.Y980fs|NUP160_ENST00000530326.1_Frame_Shift_Ins_p.Y980fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1094					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACCCTTGCGGTAATTGTGGCGA	0.391																																							uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3280-3282)TACfs		nucleoporin 160kDa																																				SO:0001589	frameshift_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47819339_47819340insA	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3281dupT	11.37:g.47819341_47819341dupA	ENSP00000367721:p.Tyr1094fs					NUP160_uc009ylw.2_RNA	p.Y1094fs	NM_015231	NP_056046	Q12769	NU160_HUMAN			27	3365_3366	-			1094					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Frame_Shift_Ins	INS	ENST00000378460.2	37	c.3280_3281insT	CCDS31484.1																																																																																				0.391	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		45	62	NA	NA	NA	NA	NA	45	62	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	CAG	CAG	-	-	CAG	CAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																							uc002dmu.2		NA																	0				ovary(2)	2						c.(1759-1764)GCCAGC>GCC		solute carrier family 5 (sodium/glucose				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del	p.S592del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	1993_1995	+			592			Cytoplasmic (Potential).			In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		8	108	NA	NA	NA	NA	NA	8	108	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57111872	57111872	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr16:57111872delT	ENST00000262510.6	+	43	5246	c.5021delT	c.(5020-5022)ctgfs	p.L1674fs	NLRC5_ENST00000539144.1_Frame_Shift_Del_p.L1645fs|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Frame_Shift_Del_p.L1645fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1674					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCAATGCCCTGGGGGATCCC	0.677																																							uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(5020-5022)CTGfs		nucleotide-binding oligomerization domains 27							41.0	39.0	40.0					16																	57111872		2198	4300	6498	SO:0001589	frameshift_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111872delT	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5021delT	16.37:g.57111872delT	ENSP00000262510:p.Leu1674fs					NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Frame_Shift_Del_p.L216fs|NLRC5_uc002ekr.1_Frame_Shift_Del_p.L561fs	p.L1674fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			43	5246	+		all_neural(199;0.225)	1674			LRR 22.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	ENST00000262510.6	37	c.5021delT	CCDS10773.1																																																																																				0.677	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		9	45	NA	NA	NA	NA	NA	9	45	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56382227	56382227	+	Frame_Shift_Del	DEL	G	G	-	rs548667642	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr19:56382227delG	ENST00000301295.6	+	7	2811	c.2389delG	c.(2389-2391)gaafs	p.E797fs	NLRP4_ENST00000346986.5_Frame_Shift_Del_p.E741fs|NLRP4_ENST00000587891.1_Frame_Shift_Del_p.E722fs	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	797					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCAGTGCTGCGAATACATCTC	0.512																																							uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2389-2391)GAAfs		NLR family, pyrin domain containing 4							157.0	133.0	142.0					19																	56382227		2203	4300	6503	SO:0001589	frameshift_variant	147945						ATP binding	g.chr19:56382227delG	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2389delG	19.37:g.56382227delG	ENSP00000301295:p.Glu797fs					NLRP4_uc002qmf.2_Frame_Shift_Del_p.E722fs|NLRP4_uc010etf.2_Frame_Shift_Del_p.E572fs	p.E797fs	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2811	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	797					Q86W87|Q96AY6	Frame_Shift_Del	DEL	ENST00000301295.6	37	c.2389delG	CCDS12936.1																																																																																				0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		42	41	NA	NA	NA	NA	NA	42	41	---	---	---	---
HADHA	3030	broad.mit.edu	37	2	26455076	26455076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:26455076delC	ENST00000380649.3	-	6	654	c.525delG	c.(523-525)ttgfs	p.L176fs	HADHA_ENST00000457468.2_Frame_Shift_Del_p.L89fs|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	176					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCCCAGCAAAACTTCAG	0.418																																							uc002rgy.2		NA																	0				ovary(1)	1						c.(523-525)TTGfs		mitochondrial trifunctional protein, alpha	NADH(DB00157)						103.0	96.0	98.0					2																	26455076		2203	4300	6503	SO:0001589	frameshift_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26455076delC	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.525delG	2.37:g.26455076delC	ENSP00000370023:p.Leu176fs					HADHA_uc010yks.1_Frame_Shift_Del_p.L88fs|HADHA_uc010ykt.1_Frame_Shift_Del_p.L88fs	p.L175fs	NM_000182	NP_000173	P40939	ECHA_HUMAN			6	655	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		175					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Frame_Shift_Del	DEL	ENST00000380649.3	37	c.525delG	CCDS1721.1																																																																																				0.418	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		7	94	NA	NA	NA	NA	NA	7	94	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37276863	37276864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr2:37276863_37276864insA	ENST00000233099.5	-	18	2723_2724	c.2628_2629insT	c.(2626-2631)cttggafs	p.G877fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.G877fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	877						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCATTCTTCCAAGAGCTTCCC	0.46																																							uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(2626-2631)CTTGGAfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37276863_37276864insA	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2629dupT	2.37:g.37276865_37276865dupA	ENSP00000233099:p.Gly877fs						p.L876fs	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			18	2724_2725	-		all_hematologic(82;0.21)	876_877			HEAT 1.		B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.2628_2629insT	CCDS33181.1																																																																																				0.460	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		44	58	NA	NA	NA	NA	NA	44	58	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9449216	9449221	+	Splice_Site	DEL	AGGGAA	AGGGAA	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	AGGGAA	AGGGAA	-	-	AGGGAA	AGGGAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr20:9449216_9449221delAGGGAA	ENST00000378493.1	+	32	3227_3231	c.3212_3216delAGGGAA	c.(3211-3216)aaggga>a	p.KG1071del	PLCB4_ENST00000278655.4_Splice_Site_p.KG1071del|PLCB4_ENST00000334005.3_Splice_Site_p.KG1071del|PLCB4_ENST00000414679.2_Splice_Site_p.KG1083del|PLCB4_ENST00000378473.3_Splice_Site_p.KG1083del|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Splice_Site_p.KG1071del			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1071					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTAATACATAGGGAAAGCAAGGAAA	0.408																																							uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.e34-1		phospholipase C beta 4 isoform b																																				SO:0001630	splice_region_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9449216_9449221delAGGGAA		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3213-1AGGGAA>-	20.37:g.9449216_9449221delAGGGAA						PLCB4_uc010gbx.2_Splice_Site_p.R1083_splice|PLCB4_uc002wne.2_Splice_Site_p.R1071_splice|PLCB4_uc002wnh.2_Splice_Site_p.R918_splice	p.R1071_splice	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			34	3349	+								B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Splice_Site	DEL	ENST00000378493.1	37	c.3213_splice	CCDS13105.1																																																																																				0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		In_Frame_Del	25	144	NA	NA	NA	NA	NA	25	144	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515367	195515414	+	In_Frame_Del	DEL	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	-	rs369312980|rs547775645|rs201510137|rs200193644|rs531942134|rs13060431|rs200400545|rs71180964|rs199583597|rs55868431|rs55803325|rs550428312|rs199702053|rs13065584	byFrequency	TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	-	-	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr3:195515367_195515414delGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	ENST00000463781.3	-	2	3496_3543	c.3037_3084delAGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACC	c.(3037-3084)agcccttcctcagtatccacaggtcacaccacccctcttcctgtcaccdel	p.SPSSVSTGHTTPLPVT1013del	MUC4_ENST00000475231.1_In_Frame_Del_p.SPSSVSTGHTTPLPVT1013del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	448	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)|p.S1013G(2)|p.T1022A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGA	0.573																																							uc011bto.1		NA																	8	Substitution - Missense(4)|Deletion - In frame(4)		stomach(6)|prostate(2)		0						c.(3037-3084)AGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACCdel		mucin 4 isoform a																																				SO:0001651	inframe_deletion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515367_195515414delGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3037_3084delAGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACC	3.37:g.195515367_195515414delGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	ENSP00000417498:p.Ser1013_Thr1028del					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.SPSSVSTGHTTPLPVT1013del	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3497_3544	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1013_1029			Repeat.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	c.3037_3084delAGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACC	CCDS54700.1																																																																																				0.573	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5051-01A-21D-1855-08	TCGA-50-5051-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb50bc27-fb18-4eee-8785-b8e8b69bcbe6	91ddece4-7730-4739-9b9f-ded43a5dd8ab	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																							uc003tln.2		NA																	1	Deletion - Frameshift(1)		breast(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)ATTfs		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			3	342	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			7	283	NA	NA	NA	NA	NA	7	283	---	---	---	---
