#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MEGF6	1953	broad.mit.edu	37	1	3422007	3422007	+	Missense_Mutation	SNP	G	G	A	rs367928595	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:3422007G>A	ENST00000356575.4	-	16	2258	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	MEGF6_ENST00000294599.4_Missense_Mutation_p.R573W	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	678						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGCTCGCCCCGGAAGCCAGCC	0.697													g|||	8	0.00159744	0.0	0.0	5008	,	,		14717	0.0079		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	uc001akl.2		NA																	0				large_intestine(1)	1						c.(2032-2034)CGG>TGG		EGF-like-domain, multiple 3 precursor		A	TRP/ARG	4,4194		0,4,2095	13.0	17.0	15.0		2032	-2.9	0.0	1		15	0,8422		0,0,4211	no	missense	MEGF6	NM_001409.3	101	0,4,6306	AA,AG,GG		0.0,0.0953,0.0317	benign	678/1542	3422007	4,12616	2099	4211	6310	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3422007G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2032C>T	1.37:g.3422007G>A	ENSP00000348982:p.Arg678Trp					MEGF6_uc001akk.2_Missense_Mutation_p.R573W	p.R678W	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	16	2259	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	678					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2032C>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	g	4.134	0.023203	0.08006	9.53E-4	0.0	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.35421	1.31;1.31	4.62	-2.9	0.05648	EGF-like, laminin (1);EGF-like region, conserved site (2);	0.883482	0.09863	N	0.745916	T	0.23054	0.0557	L	0.43646	1.37	0.09310	N	0.999993	B;B	0.12630	0.003;0.006	B;B	0.12837	0.002;0.008	T	0.24835	-1.0149	10	0.40728	T	0.16	-5.3437	1.3601	0.02190	0.2864:0.1044:0.396:0.2132	.	678;573	O75095;O75095-2	MEGF6_HUMAN;.	W	573;678	ENSP00000294599:R573W;ENSP00000348982:R678W	ENSP00000294599:R573W	R	-	1	2	MEGF6	3411867	0.000000	0.05858	0.004000	0.12327	0.130000	0.20726	-0.444000	0.06854	-1.078000	0.03117	-1.402000	0.01139	CGG		0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	9	0	0	0	0	3	9				
SPEN	23013	broad.mit.edu	37	1	16203028	16203028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:16203028C>T	ENST00000375759.3	+	3	940	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	246	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGGTCACCACATTCATCCCA	0.542																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(736-738)CAT>TAT		spen homolog, transcriptional regulator							61.0	58.0	59.0					1																	16203028		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16203028C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.736C>T	1.37:g.16203028C>T	ENSP00000364912:p.His246Tyr					SPEN_uc010obp.1_Missense_Mutation_p.H205Y	p.H246Y	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	3	940	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	246			Ser-rich.|Arg-rich.|By similarity.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.736C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490881	0.64074	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.33865	3.0;1.39	5.78	5.78	0.91487	.	.	.	.	.	T	0.51991	0.1707	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.53129	-0.8482	9	0.87932	D	0	-21.8318	20.0118	0.97458	0.0:1.0:0.0:0.0	.	246	Q96T58	MINT_HUMAN	Y	246;205;205	ENSP00000364912:H246Y;ENSP00000388021:H205Y	ENSP00000364906:H205Y	H	+	1	0	SPEN	16075615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.280000	0.78610	2.744000	0.94065	0.563000	0.77884	CAT		0.542	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		30	30	0	0	0	0	30	30				
HSPG2	3339	broad.mit.edu	37	1	22169404	22169404	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:22169404C>T	ENST00000374695.3	-	67	8848	c.8769G>A	c.(8767-8769)ctG>ctA	p.L2923L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2923	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGGCTGGGCCAGTCCTGGAG	0.637																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8767-8769)CTG>CTA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						59.0	56.0	57.0					1																	22169404		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22169404C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8769G>A	1.37:g.22169404C>T						HSPG2_uc009vqd.2_Silent_p.L2924L	p.L2923L	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	67	8809	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2923			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.8769G>A	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	54	0	0	0	0	6	54				
TCEA3	6920	broad.mit.edu	37	1	23724057	23724057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:23724057C>T	ENST00000450454.2	-	7	751	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	215	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTTCTGATGCCATCTTGTCAC	0.498																																						uc001bgx.1		NA																	0					0						c.(643-645)ATG>ATA		transcription elongation factor A (SII), 3							105.0	100.0	102.0					1																	23724057		2012	4184	6196	SO:0001583	missense	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23724057C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.645G>A	1.37:g.23724057C>T	ENSP00000406293:p.Met215Ile					TCEA3_uc009vqn.1_Missense_Mutation_p.M194I	p.M215I	NM_003196	NP_003187	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	7	780	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	215			TFIIS central.		A8K2K7|Q5DR83	Missense_Mutation	SNP	ENST00000450454.2	37	c.645G>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816169	0.50527	.	.	ENSG00000204219	ENST00000450454	T	0.37915	1.17	5.36	5.36	0.76844	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.124523	0.64402	D	0.000001	T	0.27765	0.0683	L	0.28192	0.835	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.15052	0.012;0.012	T	0.04796	-1.0926	10	0.59425	D	0.04	-3.8338	13.0532	0.58966	0.1611:0.8389:0.0:0.0	.	215;215	A8K2K7;O75764	.;TCEA3_HUMAN	I	215	ENSP00000406293:M215I	ENSP00000406293:M215I	M	-	3	0	TCEA3	23596644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.879000	0.48522	2.682000	0.91365	0.549000	0.68633	ATG		0.498	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		8	45	0	0	0	0	8	45				
GRHL3	57822	broad.mit.edu	37	1	24663602	24663602	+	Missense_Mutation	SNP	C	C	T	rs149044763		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:24663602C>T	ENST00000350501.5	+	5	774	c.647C>T	c.(646-648)cCg>cTg	p.P216L	GRHL3_ENST00000236255.4_Missense_Mutation_p.P221L|GRHL3_ENST00000342072.4_Missense_Mutation_p.P123L|GRHL3_ENST00000356046.2_Missense_Mutation_p.P170L|GRHL3_ENST00000361548.4_Missense_Mutation_p.P216L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	216					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAAACCTCCCCGGAACCCCCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17084	0.001		0.0	False		,,,				2504	0.0					uc001biy.2		NA																	0				ovary(1)	1						c.(661-663)CCG>CTG		sister-of-mammalian grainyhead protein isoform							76.0	74.0	75.0					1																	24663602		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663602C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.647C>T	1.37:g.24663602C>T	ENSP00000288955:p.Pro216Leu					GRHL3_uc001bix.2_Missense_Mutation_p.P216L|GRHL3_uc001biz.2_Missense_Mutation_p.P123L	p.P221L	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	5	708	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	216					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.662C>T	CCDS252.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.35	2.508375	0.44660	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11063	3.0;2.81;2.97;3.0;2.99	6.06	5.1	0.69264	.	0.528179	0.20238	N	0.096334	T	0.11537	0.0281	L	0.46157	1.445	0.46203	D	0.998925	B;B;B	0.32829	0.386;0.335;0.335	B;B;B	0.29440	0.102;0.062;0.062	T	0.09574	-1.0668	10	0.28530	T	0.3	-30.8616	15.9698	0.80004	0.0:0.8654:0.1346:0.0	.	170;221;216	A2A297;Q8TE85-2;G3XAF0	.;.;.	L	216;123;216;170;221	ENSP00000354943:P216L;ENSP00000340543:P123L;ENSP00000288955:P216L;ENSP00000348333:P170L;ENSP00000236255:P221L	ENSP00000236255:P221L	P	+	2	0	GRHL3	24536189	0.834000	0.29399	0.996000	0.52242	0.815000	0.46073	1.884000	0.39668	2.882000	0.98803	0.655000	0.94253	CCG		0.567	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		5	25	0	0	0	0	5	25				
TFAP2E	339488	broad.mit.edu	37	1	36060122	36060122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:36060122G>T	ENST00000373235.3	+	7	1382	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCACCCATGGCTTCGGTGG	0.587																																						uc010ohy.1		NA																	0					0						c.(1174-1176)GGC>TGC		transcription factor AP-2 epsilon (activating							109.0	91.0	97.0					1																	36060122		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36060122G>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.1174G>T	1.37:g.36060122G>T	ENSP00000362332:p.Gly392Cys					PSMB2_uc001bzd.1_Intron	p.G392C	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN			7	1382	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	392			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000373235.3	37	c.1174G>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372123	0.82573	.	.	ENSG00000116819	ENST00000373235	D	0.99454	-5.92	5.38	4.43	0.53597	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97641	1.0148	10	0.87932	D	0	-24.3316	15.4933	0.75629	0.0:0.0:0.8612:0.1388	.	392	Q6VUC0	AP2E_HUMAN	C	392	ENSP00000362332:G392C	ENSP00000362332:G392C	G	+	1	0	TFAP2E	35832709	1.000000	0.71417	0.945000	0.38365	0.857000	0.48899	9.857000	0.99534	2.512000	0.84698	0.561000	0.74099	GGC		0.587	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		22	26	1	0	5.26e-13	5.86e-13	22	26				
GUCA2A	2980	broad.mit.edu	37	1	42628622	42628622	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:42628622C>T	ENST00000357001.2	-	3	308	c.303G>A	c.(301-303)ccG>ccA	p.P101P		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	101						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACATGTGCCCGGGTCCTCAG	0.617																																						uc001chd.1		NA																	0				pancreas(1)	1						c.(301-303)CCG>CCA		guanylate cyclase activator 2A precursor							85.0	76.0	79.0					1																	42628622		2203	4300	6503	SO:0001819	synonymous_variant	2980				signal transduction	extracellular region	guanylate cyclase activator activity|hormone activity	g.chr1:42628622C>T	X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"""Endogenous ligands"""	4682	protein-coding gene	gene with protein product	"""prepro-guanylin"""	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.303G>A	1.37:g.42628622C>T							p.P101P	NM_033553	NP_291031	Q02747	GUC2A_HUMAN			3	315	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	101						Silent	SNP	ENST00000357001.2	37	c.303G>A	CCDS465.1																																																																																				0.617	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018306.1	NM_033553		10	46	0	0	0	0	10	46				
CNN3	1266	broad.mit.edu	37	1	95367290	95367290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:95367290C>G	ENST00000370206.4	-	5	819	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CNN3_ENST00000538964.1_Missense_Mutation_p.E146Q|CNN3_ENST00000545882.1_Missense_Mutation_p.E105Q|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.E100Q	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	146					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTTTGTTTTTCTGCATACTTA	0.363																																						uc010otw.1		NA																	0					0						c.(436-438)GAA>CAA		calponin 3							124.0	108.0	113.0					1																	95367290		2203	4300	6503	SO:0001583	missense	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95367290C>G	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.436G>C	1.37:g.95367290C>G	ENSP00000359225:p.Glu146Gln					CNN3_uc010otv.1_Missense_Mutation_p.E105Q|CNN3_uc001dqz.3_Missense_Mutation_p.E146Q|CNN3_uc010otx.1_Missense_Mutation_p.E100Q	p.E146Q	NM_001839	NP_001830	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	6	518	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	146					B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	ENST00000370206.4	37	c.436G>C	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938023	0.73557	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	T;T;T;T;T	0.54675	0.56;0.56;1.41;1.06;1.06	5.63	5.63	0.86233	Calponin homology domain (2);	0.048349	0.85682	D	0.000000	T	0.38532	0.1044	L	0.47190	1.495	0.58432	D	0.999997	B;B	0.32324	0.364;0.305	B;B	0.34931	0.192;0.19	T	0.23261	-1.0193	10	0.28530	T	0.3	-22.498	19.6776	0.95943	0.0:1.0:0.0:0.0	.	100;146	F8WA86;Q15417	.;CNN3_HUMAN	Q	146;146;100;105;105	ENSP00000359225:E146Q;ENSP00000437665:E146Q;ENSP00000377752:E100Q;ENSP00000440081:E105Q;ENSP00000401452:E105Q	ENSP00000359225:E146Q	E	-	1	0	CNN3	95139878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.731000	0.68554	2.633000	0.89246	0.650000	0.86243	GAA		0.363	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		8	26	0	0	0	0	8	26				
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Substitution - Nonsense(2)		prostate(2)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(535-537)TGT>TGA		notch 2 preproprotein							115.0	89.0	98.0					1																	120539834		2202	4300	6502	SO:0001587	stop_gained	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539834A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.537T>A	1.37:g.120539834A>T	ENSP00000256646:p.Cys179*					NOTCH2_uc001eil.2_Nonsense_Mutation_p.C179*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.C96*	p.C179*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	793	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	179			Extracellular (Potential).|EGF-like 4.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.537T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	37	6.561929	0.97667	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.83	3.53	0.40419	.	0.000000	0.41194	U	0.000921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8688	0.35303	0.7868:0.0:0.2132:0.0	.	.	.	.	X	179;140;152;140	.	ENSP00000256646:C179X	C	-	3	2	NOTCH2	120341357	0.976000	0.34144	0.998000	0.56505	0.933000	0.57130	0.678000	0.25277	1.020000	0.39573	0.477000	0.44152	TGT		0.552	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		18	37	0	0	0	0	18	37				
RNASEL	6041	broad.mit.edu	37	1	182555479	182555479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:182555479G>A	ENST00000367559.3	-	2	716	c.463C>T	c.(463-465)Cga>Tga	p.R155*	RNASEL_ENST00000539397.1_Nonsense_Mutation_p.R155*|RNASEL_ENST00000444138.1_Nonsense_Mutation_p.R155*	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	155					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTGTCTTTCGCCTCAAATTC	0.468																																						uc001gpj.1		NA																	0				ovary(4)|stomach(1)	5						c.(463-465)CGA>TGA		ribonuclease L							83.0	68.0	73.0					1																	182555479		2203	4300	6503	SO:0001587	stop_gained	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555479G>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.463C>T	1.37:g.182555479G>A	ENSP00000356530:p.Arg155*					RNASEL_uc009wxz.1_Nonsense_Mutation_p.R155*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.R155*|RNASEL_uc009wya.1_Nonsense_Mutation_p.R155*	p.R155*	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	630	-			155					Q5W0L2|Q6AI46	Nonsense_Mutation	SNP	ENST00000367559.3	37	c.463C>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454662	0.96223	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	.	.	.	5.03	4.11	0.48088	.	0.123972	0.35555	N	0.003130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2432	11.1758	0.48598	0.0:0.0:0.5965:0.4035	.	.	.	.	X	155	.	ENSP00000356530:R155X	R	-	1	2	RNASEL	180822102	0.318000	0.24598	0.005000	0.12908	0.074000	0.17049	1.242000	0.32755	1.115000	0.41800	0.467000	0.42956	CGA		0.468	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		3	23	0	0	0	0	3	23				
RBM34	23029	broad.mit.edu	37	1	235301488	235301488	+	Splice_Site	SNP	G	G	A	rs372922102		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:235301488G>A	ENST00000408888.3	-	7	933	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	RBM34_ENST00000495224.1_5'Flank|RBM34_ENST00000366606.3_Splice_Site_p.R230C			P42696	RBM34_HUMAN	RNA binding motif protein 34	235	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TGAATTTTACGTCTACACCAA	0.333																																						uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(703-705)CGT>TGT		RNA binding motif protein 34 isoform 1		G	CYS/ARG	1,3683		0,1,1841	60.0	55.0	56.0		703	4.6	1.0	1		56	0,8164		0,0,4082	no	missense-near-splice	RBM34	NM_015014.2	180	0,1,5923	AA,AG,GG		0.0,0.0271,0.0084	probably-damaging	235/431	235301488	1,11847	1842	4082	5924	SO:0001630	splice_region_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235301488G>A		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.702-1C>T	1.37:g.235301488G>A						RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	p.R235C	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		7	733	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	235			RRM 1.		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.703C>T	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173632	0.57584	2.71E-4	0.0	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.39787	2.35;2.36;1.06	5.51	4.6	0.57074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.53373	-0.8448	10	0.87932	D	0	-9.3012	9.6326	0.39789	0.073:0.0:0.7852:0.1418	.	235	P42696	RBM34_HUMAN	C	235;230;213	ENSP00000386226:R235C;ENSP00000355565:R230C;ENSP00000400000:R213C	ENSP00000355565:R230C	R	-	1	0	RBM34	233368111	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	4.311000	0.59147	1.344000	0.45657	0.585000	0.79938	CGT		0.333	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014	Missense_Mutation	5	10	0	0	0	0	5	10				
FMN2	56776	broad.mit.edu	37	1	240256066	240256066	+	Silent	SNP	A	A	G	rs532298569	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:240256066A>G	ENST00000319653.9	+	1	887	c.657A>G	c.(655-657)caA>caG	p.Q219Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	219	Gln-rich.				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.Q354_Q362delQQLQLQLQQ(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)			agctccagcaacagcagcagc	0.672																																						uc010pyd.1		NA																	1	Deletion - In frame(1)		breast(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(655-657)CAA>CAG		formin 2							15.0	16.0	16.0					1																	240256066		2178	4222	6400	SO:0001819	synonymous_variant	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.chr1:240256066A>G	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.657A>G	1.37:g.240256066A>G						FMN2_uc010pye.1_Silent_p.Q219Q	p.Q219Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	882	+	Ovarian(103;0.127)	all_cancers(173;0.013)	219			Potential.|Gln-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.657A>G	CCDS31069.2																																																																																				0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	6	0	0	0	0	6	6				
CUBN	8029	broad.mit.edu	37	10	17142048	17142048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:17142048C>T	ENST00000377833.4	-	14	1786	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	574	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCATTTCTTAAATGTTC	0.403																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1720-1722)AGA>AAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						126.0	125.0	126.0					10																	17142048		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142048C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1721G>A	10.37:g.17142048C>T	ENSP00000367064:p.Arg574Lys						p.R574K	NM_001081	NP_001072	O60494	CUBN_HUMAN			14	1773	-			574			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1721G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360560	0.01245	.	.	ENSG00000107611	ENST00000377833	T	0.59638	0.25	5.51	2.31	0.28768	CUB (5);	0.504604	0.16834	N	0.197610	T	0.33411	0.0862	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25537	-1.0129	10	0.02654	T	1	.	1.3004	0.02078	0.2107:0.4021:0.2143:0.1729	.	574	O60494	CUBN_HUMAN	K	574	ENSP00000367064:R574K	ENSP00000367064:R574K	R	-	2	0	CUBN	17182054	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.245000	0.32790	0.663000	0.31027	0.650000	0.86243	AGA		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	149	0	0	0	0	22	149				
ITGB1	3688	broad.mit.edu	37	10	33208820	33208820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:33208820C>T	ENST00000396033.2	-	11	1597	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T	ITGB1_ENST00000423113.1_Missense_Mutation_p.A488T|ITGB1_ENST00000302278.3_Missense_Mutation_p.A488T|ITGB1_ENST00000374956.4_Missense_Mutation_p.A488T	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	488	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TACCTGCACGCGCCACACTCA	0.453																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1462-1464)GCG>ACG		integrin beta 1 isoform 1A precursor							99.0	85.0	90.0					10																	33208820		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33208820C>T	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1462G>A	10.37:g.33208820C>T	ENSP00000379350:p.Ala488Thr					ITGB1_uc001iwp.3_Missense_Mutation_p.A488T|ITGB1_uc001iwq.3_Missense_Mutation_p.A488T|ITGB1_uc001iwr.3_Missense_Mutation_p.A488T|ITGB1_uc001iwt.3_Missense_Mutation_p.A488T|ITGB1_uc001iwu.1_Missense_Mutation_p.A488T	p.A488T	NM_133376	NP_596867	P05556	ITB1_HUMAN			11	1598	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	488			Extracellular (Potential).|I.|Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1462G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058649	0.93846	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.99	4.99	0.66335	.	0.050603	0.85682	D	0.000000	T	0.69984	0.3172	L	0.33093	0.98	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.984;0.998;0.985;0.999	P;P;D;B;D	0.65140	0.79;0.621;0.93;0.341;0.932	T	0.71481	-0.4580	10	0.49607	T	0.09	.	18.6414	0.91397	0.0:1.0:0.0:0.0	.	488;488;488;488;488	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	T	488	ENSP00000379350:A488T;ENSP00000388694:A488T;ENSP00000303351:A488T;ENSP00000364094:A488T	ENSP00000303351:A488T	A	-	1	0	ITGB1	33248826	1.000000	0.71417	0.668000	0.29813	0.752000	0.42762	7.573000	0.82421	2.469000	0.83416	0.460000	0.39030	GCG		0.453	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		7	61	0	0	0	0	7	61				
PCDH15	65217	broad.mit.edu	37	10	55566403	55566403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:55566403G>C	ENST00000373965.2	-	36	5385	c.4991C>G	c.(4990-4992)tCt>tGt	p.S1664C	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1661C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCATCATCAGACTGTGTGTG	0.388										HNSCC(58;0.16)																												uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4984-4986)TCT>TGT		protocadherin 15 isoform CD3-1 precursor							190.0	155.0	166.0					10																	55566403		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566403G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4991C>G	10.37:g.55566403G>C	ENSP00000363076:p.Ser1664Cys	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.S1657C	p.S1662C	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5380	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4985C>G		.	.	.	.	.	.	.	.	.	.	G	20.7	4.041526	0.75732	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.70986	-0.53;-0.51	6.02	6.02	0.97574	.	.	.	.	.	D	0.83124	0.5186	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.956	T	0.83261	-0.0048	9	0.87932	D	0	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	1655;1661	C6ZEF7;C9J4F3	.;.	C	1664;1661;1657	ENSP00000363076:S1664C;ENSP00000410304:S1661C	ENSP00000363076:S1664C	S	-	2	0	PCDH15	55236409	1.000000	0.71417	0.947000	0.38551	0.757000	0.42996	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	TCT		0.388	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		34	44	0	0	0	0	34	44				
GHITM	27069	broad.mit.edu	37	10	85903817	85903817	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:85903817A>G	ENST00000372134.3	+	4	489	c.296A>G	c.(295-297)tAt>tGt	p.Y99C		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	99					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TTGTGCTACTATGGCTTGGGA	0.418																																						uc001kcs.1		NA																	0					0						c.(295-297)TAT>TGT		growth hormone inducible transmembrane protein							245.0	248.0	247.0					10																	85903817		2008	4161	6169	SO:0001583	missense	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85903817A>G	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.296A>G	10.37:g.85903817A>G	ENSP00000361207:p.Tyr99Cys					GHITM_uc010qma.1_Missense_Mutation_p.M55V|GHITM_uc010qmb.1_Missense_Mutation_p.Y29C	p.Y99C	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN			4	500	+			99			Helical; (Potential).		A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Missense_Mutation	SNP	ENST00000372134.3	37	c.296A>G	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529054	0.85706	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.88105	2.93	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	D	0.84275	0.0491	9	0.72032	D	0.01	-17.9047	15.7887	0.78332	1.0:0.0:0.0:0.0	.	99	Q9H3K2	GHITM_HUMAN	C	99;86;99	.	ENSP00000361207:Y99C	Y	+	2	0	GHITM	85893797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.802000	0.91910	2.367000	0.80283	0.528000	0.53228	TAT		0.418	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		34	71	0	0	0	0	34	71				
CCNJ	54619	broad.mit.edu	37	10	97810064	97810064	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr10:97810064C>T	ENST00000265992.5	+	3	488	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	CCNJ_ENST00000465148.2_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R41W|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R41W	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	41	Cyclin N-terminal.					nucleus (GO:0005634)		p.R41W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AAGTCTCAGACGGTATTTTGC	0.478																																						uc001klm.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(121-123)CGG>TGG		cyclin J isoform 2							167.0	135.0	146.0					10																	97810064		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97810064C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.121C>T	10.37:g.97810064C>T	ENSP00000265992:p.Arg41Trp					uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.R41W|CCNJ_uc001kln.2_Missense_Mutation_p.R41W	p.R41W	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	3	480	+			41			Cyclin N-terminal.		B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.121C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851763	0.71719	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.12465	2.68;2.68;2.68	5.26	2.05	0.26809	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.64687	0.917;0.882;0.928	T	0.36841	-0.9731	10	0.66056	D	0.02	-17.0914	13.7225	0.62737	0.6642:0.3358:0.0:0.0	.	41;41;41	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	W	41	ENSP00000265992:R41W;ENSP00000384498:R41W;ENSP00000441415:R41W	ENSP00000265992:R41W	R	+	1	2	CCNJ	97800054	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.345000	0.33953	0.170000	0.19704	0.644000	0.83932	CGG		0.478	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		21	47	0	0	0	0	21	47				
DRD4	1815	broad.mit.edu	37	11	640559	640559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:640559G>A	ENST00000176183.5	+	4	1228	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	454					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CTTCAACGCCGAGTTCCGCAA	0.697																																						uc001lqp.1		NA																	0					0						c.(1216-1218)GAG>AAG		dopamine receptor D4	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)						96.0	82.0	87.0					11																	640559		2203	4299	6502	SO:0001583	missense	1815				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding	g.chr11:640559G>A	L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"""GPCR / Class A : Dopamine receptors"""	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1216G>A	11.37:g.640559G>A	ENSP00000176183:p.Glu406Lys						p.E406K	NM_000797	NP_000788	P21917	DRD4_HUMAN		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	1216	+		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	454			Cytoplasmic (Potential).		B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	ENST00000176183.5	37	c.1216G>A	CCDS7710.1	.	.	.	.	.	.	.	.	.	.	g	33	5.273401	0.95459	.	.	ENSG00000069696	ENST00000176183	T	0.38077	1.16	3.02	3.02	0.34903	.	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	.	.	.	0.53688	D	0.999978	D	0.89917	1.0	D	0.80764	0.994	T	0.66472	-0.5915	9	0.87932	D	0	.	13.2758	0.60186	0.0:0.0:1.0:0.0	.	454	P21917	DRD4_HUMAN	K	406	ENSP00000176183:E406K	ENSP00000176183:E406K	E	+	1	0	DRD4	630559	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.163000	0.94750	1.709000	0.51313	0.457000	0.33378	GAG		0.697	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257109.1	NM_000797		16	72	0	0	0	0	16	72				
MRPL17	63875	broad.mit.edu	37	11	6704513	6704513	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:6704513G>C	ENST00000288937.6	-	1	119	c.15C>G	c.(13-15)gtC>gtG	p.V5V	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	5					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCGCTGCAGCGACCGACAGCC	0.632											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001men.2		NA																	0					0						c.(13-15)GTC>GTG		mitochondrial ribosomal protein L17 precursor							29.0	29.0	29.0					11																	6704513		2201	4296	6497	SO:0001819	synonymous_variant	63875				translation	ribosome	protein domain specific binding|structural constituent of ribosome	g.chr11:6704513G>C	AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.15C>G	11.37:g.6704513G>C			OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636		p.V5V	NM_022061	NP_071344	Q9NRX2	RM17_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	120	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	5					D3DQU3|Q6IAH8|Q96Q53|Q9C066	Silent	SNP	ENST00000288937.6	37	c.15C>G	CCDS31412.1																																																																																				0.632	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384544.1	NM_022061		7	15	0	0	0	0	7	15				
MICAL2	9645	broad.mit.edu	37	11	12265567	12265567	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:12265567C>A	ENST00000256194.4	+	21	2980	c.2692C>A	c.(2692-2694)Cat>Aat	p.H898N	MICAL2_ENST00000342902.5_Missense_Mutation_p.H898N|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	898					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCTCATACTCATCCTCCATC	0.473																																						uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(2692-2694)CAT>AAT		microtubule associated monoxygenase, calponin							407.0	342.0	364.0					11																	12265567		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12265567C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2692C>A	11.37:g.12265567C>A	ENSP00000256194:p.His898Asn					MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.H898N|MICAL2_uc010rci.1_Missense_Mutation_p.H898N|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	p.H898N	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	21	2980	+			898					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2692C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124535	0.37533	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.60548	0.18;0.19	5.23	5.23	0.72850	.	1.309430	0.05112	N	0.489022	T	0.49915	0.1585	N	0.24115	0.695	0.80722	D	1	B;B	0.25609	0.13;0.039	B;B	0.21360	0.034;0.01	T	0.08911	-1.0699	10	0.15066	T	0.55	.	18.7697	0.91887	0.0:1.0:0.0:0.0	.	898;898	G3XAC8;O94851	.;MICA2_HUMAN	N	898	ENSP00000256194:H898N;ENSP00000344894:H898N	ENSP00000256194:H898N	H	+	1	0	MICAL2	12222143	0.991000	0.36638	0.186000	0.23195	0.625000	0.37756	3.690000	0.54713	2.596000	0.87737	0.563000	0.77884	CAT		0.473	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		30	126	1	0	1.89e-17	2.12e-17	30	126				
NAV2	89797	broad.mit.edu	37	11	20119263	20119263	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:20119263G>A	ENST00000396087.3	+	34	6429	c.6330G>A	c.(6328-6330)gaG>gaA	p.E2110E	NAV2_ENST00000527559.2_Silent_p.E2039E|NAV2_ENST00000311043.8_Silent_p.E1115E|NAV2_ENST00000533917.1_Silent_p.E1115E|NAV2_ENST00000360655.4_Silent_p.E1987E|NAV2_ENST00000349880.4_Silent_p.E2051E|NAV2_ENST00000540292.1_Silent_p.E2041E|NAV2_ENST00000396085.1_Silent_p.E2054E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2110					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGTTGGAGAGAACACGACCA	0.478																																						uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(6160-6162)GAG>GAA		neuron navigator 2 isoform 1							158.0	150.0	153.0					11																	20119263		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20119263G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6330G>A	11.37:g.20119263G>A						NAV2_uc001mpp.2_Silent_p.E1987E|NAV2_uc009yhx.2_Silent_p.E1115E|NAV2_uc009yhz.2_Silent_p.E696E|NAV2_uc001mpu.2_Silent_p.E489E	p.E2054E	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			31	6523	+			2110					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.6162G>A	CCDS58126.1																																																																																				0.478	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		18	76	0	0	0	0	18	76				
OR5AR1	219493	broad.mit.edu	37	11	56432082	56432082	+	Silent	SNP	A	A	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:56432082A>G	ENST00000302969.2	+	1	945	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TAATTGGAAAAAAATCTCAAT	0.348																																						uc010rjm.1		NA																	0					0						c.(919-921)AAA>AAG		olfactory receptor, family 5, subfamily AR,							24.0	25.0	25.0					11																	56432082		2201	4295	6496	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56432082A>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.921A>G	11.37:g.56432082A>G							p.K307K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	921	+			307			Cytoplasmic (Potential).		Q6IF61	Silent	SNP	ENST00000302969.2	37	c.921A>G	CCDS31535.1																																																																																				0.348	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		11	14	0	0	0	0	11	14				
KCNK4	50801	broad.mit.edu	37	11	64065047	64065047	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64065047G>A	ENST00000539216.1	+	4	943	c.583G>A	c.(583-585)Gag>Aag	p.E195K	Y_RNA_ENST00000384297.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.E195K|KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000394525.2_Missense_Mutation_p.E195K|KCNK4_ENST00000539651.1_Intron|TEX40_ENST00000539943.1_5'Flank|TEX40_ENST00000328404.6_5'Flank|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	195					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CTGCTATATGGAGGACTGGAG	0.577																																						uc001nzj.1		NA																	0					0						c.(583-585)GAG>AAG		TRAAK							143.0	106.0	118.0					11																	64065047		2201	4297	6498	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64065047G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.583G>A	11.37:g.64065047G>A	ENSP00000444948:p.Glu195Lys					KCNK4_uc001nzk.1_Intron|KCNK4_uc010rnk.1_Missense_Mutation_p.E23K|KCNK4_uc001nzl.1_Intron|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.E195K|KCNK4_uc001nzo.2_Missense_Mutation_p.E195K|KCNK4_uc001nzp.1_Missense_Mutation_p.E81K|C11orf20_uc009ypm.2_5'Flank	p.E195K	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			5	906	+			195					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.583G>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279132	0.95489	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.39787	1.06;1.06;1.06	5.26	5.26	0.73747	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	H	0.94620	3.56	0.80722	D	1	P;P	0.38800	0.648;0.566	P;P	0.46659	0.523;0.521	T	0.75291	-0.3369	10	0.72032	D	0.01	.	16.3623	0.83273	0.0:0.0:1.0:0.0	.	221;195	Q9NYG8-2;Q9NYG8	.;KCNK4_HUMAN	K	195;220;195;257;195	ENSP00000402797:E195K;ENSP00000378033:E195K;ENSP00000444948:E195K	ENSP00000378033:E195K	E	+	1	0	KCNK4	63821623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.387000	0.97232	2.459000	0.83118	0.511000	0.50034	GAG		0.577	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		12	100	0	0	0	0	12	100				
EHD1	10938	broad.mit.edu	37	11	64627529	64627529	+	Missense_Mutation	SNP	G	G	A	rs137874978		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:64627529G>A	ENST00000320631.3	-	3	1036	c.782C>T	c.(781-783)cCg>cTg	p.P261L	EHD1_ENST00000359393.2_Missense_Mutation_p.P261L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	261	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GATGAGGAGCGGGTGGGACCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16731	0.001		0.0	False		,,,				2504	0.0					uc001obu.1		NA																	0					0						c.(781-783)CCG>CTG		EH-domain containing 1		G	LEU/PRO	0,4402		0,0,2201	71.0	72.0	72.0		782	5.1	1.0	11	dbSNP_134	72	1,8593	1.2+/-3.3	0,1,4296	no	missense	EHD1	NM_006795.2	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	261/535	64627529	1,12995	2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627529G>A	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.782C>T	11.37:g.64627529G>A	ENSP00000320516:p.Pro261Leu					EHD1_uc001obv.1_Missense_Mutation_p.P261L|EHD1_uc010rnq.1_Missense_Mutation_p.P275L	p.P261L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN			3	1037	-			261					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.782C>T	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919789	0.92249	0.0	1.16E-4	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	T;T;T;T;T	0.52983	1.97;1.97;0.64;1.23;0.66	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.966;0.966	D	0.83539	0.0095	10	0.87932	D	0	.	15.9821	0.80116	0.0:0.0:1.0:0.0	.	261;261	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	261;261;237;275;125;275;125	ENSP00000320516:P261L;ENSP00000352354:P261L;ENSP00000391429:P125L;ENSP00000404944:P275L;ENSP00000396273:P125L	ENSP00000320516:P261L	P	-	2	0	EHD1	64384105	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.575000	0.98187	2.639000	0.89480	0.561000	0.74099	CCG		0.627	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		6	71	0	0	0	0	6	71				
INPPL1	3636	broad.mit.edu	37	11	71942214	71942214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:71942214C>T	ENST00000298229.2	+	12	1682	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	INPPL1_ENST00000541756.1_Missense_Mutation_p.T251M|INPPL1_ENST00000538751.1_Missense_Mutation_p.T251M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	493					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAGGAGCTTACGGATCTGGAT	0.592																																						uc001osf.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1477-1479)ACG>ATG		inositol polyphosphate phosphatase-like 1							91.0	101.0	98.0					11																	71942214		2198	4292	6490	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942214C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1478C>T	11.37:g.71942214C>T	ENSP00000298229:p.Thr493Met					INPPL1_uc001osg.2_Missense_Mutation_p.T251M	p.T493M	NM_001567	NP_001558	O15357	SHIP2_HUMAN			12	1625	+			493					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1478C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.224597	0.79576	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.80566	-1.39;-1.39;-1.39	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.055136	0.64402	D	0.000001	D	0.83266	0.5217	L	0.38953	1.18	0.46823	D	0.999212	D	0.76494	0.999	P	0.62560	0.904	T	0.82059	-0.0645	10	0.39692	T	0.17	.	15.092	0.72201	0.0:0.8578:0.1422:0.0	.	493	O15357	SHIP2_HUMAN	M	493;251;251	ENSP00000298229:T493M;ENSP00000446360:T251M;ENSP00000444619:T251M	ENSP00000298229:T493M	T	+	2	0	INPPL1	71619862	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	5.622000	0.67750	2.746000	0.94184	0.655000	0.94253	ACG		0.592	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		154	164	0	0	0	0	154	164				
GDPD5	81544	broad.mit.edu	37	11	75152211	75152211	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr11:75152211G>A	ENST00000336898.3	-	14	2307	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	GDPD5_ENST00000526177.1_Silent_p.I352I|GDPD5_ENST00000533784.1_Silent_p.I371I|GDPD5_ENST00000529721.1_Silent_p.I490I|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Silent_p.I245I|GDPD5_ENST00000376282.3_Silent_p.I371I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	490					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AACTCACCATGATCCAGAGGG	0.662																																						uc001owo.3		NA																	0				ovary(1)	1						c.(1468-1470)ATC>ATT		glycerophosphodiester phosphodiesterase domain							33.0	29.0	31.0					11																	75152211		2200	4293	6493	SO:0001819	synonymous_variant	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75152211G>A	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1470C>T	11.37:g.75152211G>A						GDPD5_uc001owp.3_Silent_p.I490I|GDPD5_uc001own.3_Silent_p.I245I|GDPD5_uc009yuc.2_Silent_p.I352I|GDPD5_uc009yud.2_Silent_p.I371I	p.I490I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			15	2007	-			490			Extracellular (Potential).		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	ENST00000336898.3	37	c.1470C>T	CCDS8238.1																																																																																				0.662	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		10	35	0	0	0	0	10	35				
KDM5A	5927	broad.mit.edu	37	12	406330	406330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:406330G>A	ENST00000399788.2	-	25	4473	c.4111C>T	c.(4111-4113)Ccc>Tcc	p.P1371S	KDM5A_ENST00000382815.4_Missense_Mutation_p.P1371S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1371					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAAAGATTGGGTTCAAGACTA	0.413			T	NUP98	AML																																	uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(4111-4113)CCC>TCC		retinoblastoma binding protein 2 isoform 1							69.0	68.0	68.0					12																	406330		1860	4104	5964	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:406330G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4111C>T	12.37:g.406330G>A	ENSP00000382688:p.Pro1371Ser					KDM5A_uc001qie.1_Missense_Mutation_p.P1371S	p.P1371S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			25	4474	-			1371					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.4111C>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349228	0.82132	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.84442	-1.85;-1.66	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88742	0.6519	L	0.29908	0.895	0.53005	D	0.999961	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	D	0.88793	0.3279	10	0.49607	T	0.09	-9.943	19.6005	0.95560	0.0:0.0:1.0:0.0	.	1371;1371	P29375;P29375-2	KDM5A_HUMAN;.	S	1371	ENSP00000382688:P1371S;ENSP00000372265:P1371S	ENSP00000372265:P1371S	P	-	1	0	KDM5A	276591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.339000	0.90041	2.634000	0.89283	0.655000	0.94253	CCC		0.413	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		22	30	0	0	0	0	22	30				
ZNF641	121274	broad.mit.edu	37	12	48737262	48737262	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:48737262T>C	ENST00000544117.2	-	6	1519	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	ZNF641_ENST00000547026.1_Missense_Mutation_p.K257E|ZNF641_ENST00000448928.3_Missense_Mutation_p.K248E|ZNF641_ENST00000301042.3_Missense_Mutation_p.K271E			Q96N77	ZN641_HUMAN	zinc finger protein 641	271					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ACAAACTGTTTCCCACACTGG	0.532																																						uc001rrn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(811-813)AAA>GAA		zinc finger protein 641							85.0	82.0	83.0					12																	48737262		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737262T>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.811A>G	12.37:g.48737262T>C	ENSP00000437832:p.Lys271Glu					ZNF641_uc001rro.1_Missense_Mutation_p.K257E|ZNF641_uc010sls.1_Missense_Mutation_p.K248E	p.K271E	NM_152320	NP_689533	Q96N77	ZN641_HUMAN			6	976	-			271			C2H2-type 1.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.811A>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651053	0.67472	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.42517	0.1206	M	0.69523	2.12	0.32622	N	0.523134	P;P	0.48503	0.911;0.59	B;B	0.43251	0.413;0.242	T	0.63323	-0.6663	10	0.72032	D	0.01	.	14.044	0.64693	0.0:0.0:0.0:1.0	.	248;271	B4DNU5;Q96N77	.;ZN641_HUMAN	E	271;271;248;257	ENSP00000301042:K271E;ENSP00000437832:K271E;ENSP00000394627:K248E;ENSP00000449974:K257E	ENSP00000301042:K271E	K	-	1	0	ZNF641	47023529	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.487000	0.45268	2.269000	0.75478	0.533000	0.62120	AAA		0.532	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		13	52	0	0	0	0	13	52				
KRT7	3855	broad.mit.edu	37	12	52627278	52627278	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:52627278C>T	ENST00000331817.5	+	1	381	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	66	Head.				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)			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)	TCCGCGAGGTCACCATTAACC	0.721																																						uc001saa.1		NA																	0					0						c.(196-198)GTC>GTT		keratin 7							18.0	20.0	20.0					12																	52627278		2194	4293	6487	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52627278C>T		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.198C>T	12.37:g.52627278C>T						KRT7_uc009zmf.1_Silent_p.V66V	p.V66V	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	1	325	+			66			Head.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.198C>T	CCDS8822.1																																																																																				0.721	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		12	15	0	0	0	0	12	15				
CCER1	196477	broad.mit.edu	37	12	91348029	91348029	+	Missense_Mutation	SNP	G	G	A	rs377744456		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:91348029G>A	ENST00000358859.2	-	1	924	c.491C>T	c.(490-492)gCg>gTg	p.A164V	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	164																	GCTCACATCCGCTGGCGGGCT	0.687																																						uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(490-492)GCG>GTG		hypothetical protein LOC196477		G	VAL/ALA	0,4402		0,0,2201	25.0	28.0	27.0		491	-7.5	0.0	12		27	1,8587		0,1,4293	no	missense	C12orf12	NM_152638.2	64	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	164/407	91348029	1,12989	2201	4294	6495	SO:0001583	missense	196477							g.chr12:91348029G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.491C>T	12.37:g.91348029G>A	ENSP00000351727:p.Ala164Val						p.A164V	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	925	-			164					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.491C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.662785	0.00772	0.0	1.16E-4	ENSG00000197651	ENST00000358859	T	0.28895	1.59	4.52	-7.52	0.01341	.	1.254160	0.06113	N	0.667505	T	0.07548	0.0190	N	0.02539	-0.55	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.21724	-1.0237	10	0.02654	T	1	-4.1099	3.6543	0.08215	0.1666:0.3533:0.3643:0.1158	.	164	Q8TC90	CL012_HUMAN	V	164	ENSP00000351727:A164V	ENSP00000351727:A164V	A	-	2	0	C12orf12	89872160	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.697000	0.05098	-1.726000	0.01370	-1.373000	0.01185	GCG		0.687	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		5	31	0	0	0	0	5	31				
CFAP54	144535	broad.mit.edu	37	12	97085024	97085024	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97085024G>T	ENST00000524981.4	+	44	6223	c.6200G>T	c.(6199-6201)tGc>tTc	p.C2067F				Q96N23	CL055_HUMAN		0																	GCTGACATTTGCTCTGTAATT	0.363																																						uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(1474-1476)TGC>TTC		hypothetical protein LOC374467							121.0	108.0	113.0					12																	97085024		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97085024G>T																												ENST00000524981.4:c.6200G>T	12.37:g.97085024G>T	ENSP00000431759:p.Cys2067Phe						p.C492F	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			11	1553	+			492						Missense_Mutation	SNP	ENST00000524981.4	37	c.1475G>T		.	.	.	.	.	.	.	.	.	.	G	12.09	1.833174	0.32421	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.73	4.79	0.61399	.	0.284734	0.36444	N	0.002596	T	0.61540	0.2355	.	.	.	0.19575	N	0.999969	D	0.71674	0.998	P	0.62560	0.904	T	0.54984	-0.8211	8	0.56958	D	0.05	-3.5077	13.3681	0.60696	0.0:0.3612:0.6388:0.0	.	492	Q6ZTY8	CL063_HUMAN	F	2067;492	.	ENSP00000345466:C492F	C	+	2	0	C12orf63	95609155	0.982000	0.34865	0.497000	0.27552	0.181000	0.23173	1.779000	0.38624	2.854000	0.98071	0.655000	0.94253	TGC		0.363	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			11	39	1	0	0.000978159	0.00102947	11	39				
RPH3A	22895	broad.mit.edu	37	12	113332462	113332462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:113332462G>A	ENST00000389385.4	+	20	2352	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.E619K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E615K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E570K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E570K|RPH3A_ENST00000420983.2_Missense_Mutation_p.E619K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E619K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	619	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGAATTCAATGAGGTAAGGCT	0.448																																						uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1855-1857)GAG>AAG		rabphilin 3A homolog isoform 1							69.0	62.0	65.0					12																	113332462		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113332462G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1855G>A	12.37:g.113332462G>A	ENSP00000374036:p.Glu619Lys					RPH3A_uc001ttz.2_Missense_Mutation_p.E619K|RPH3A_uc001tty.2_Missense_Mutation_p.E615K|RPH3A_uc009zwe.1_Missense_Mutation_p.E614K|RPH3A_uc010sym.1_Missense_Mutation_p.E570K|RPH3A_uc001tua.2_Missense_Mutation_p.E379K	p.E619K	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	20	2217	+			619			C2 2.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1855G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386980	0.95988	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.42	5.42	0.78866	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	D	0.89389	0.6701	M	0.89968	3.075	0.80722	D	1	P;P;P;P	0.52170	0.94;0.951;0.951;0.94	P;P;P;P	0.60415	0.643;0.874;0.874;0.728	D	0.91271	0.5044	10	0.72032	D	0.01	.	17.995	0.89181	0.0:0.0:1.0:0.0	.	570;619;619;615	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	619;619;570;615;619;570;619;271	ENSP00000440384:E619K;ENSP00000374036:E619K;ENSP00000413254:E570K;ENSP00000448297:E615K;ENSP00000405357:E619K;ENSP00000450347:E570K;ENSP00000408889:E619K	ENSP00000374036:E619K	E	+	1	0	RPH3A	111816845	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.476000	0.97823	2.545000	0.85829	0.585000	0.79938	GAG		0.448	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		3	11	0	0	0	0	3	11				
MCF2L	23263	broad.mit.edu	37	13	113728844	113728844	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr13:113728844G>A	ENST00000375608.3	+	11	1231	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	MCF2L_ENST00000397030.1_Silent_p.L394L|MCF2L_ENST00000375601.3_Silent_p.L365L|MCF2L_ENST00000442652.2_Silent_p.L391L|MCF2L_ENST00000434480.2_Silent_p.L367L|MCF2L_ENST00000423482.2_Silent_p.L359L|MCF2L_ENST00000375604.2_Silent_p.L418L|MCF2L_ENST00000535094.2_Silent_p.L361L|MCF2L_ENST00000421756.1_Silent_p.L365L|MCF2L_ENST00000375597.4_Silent_p.L359L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	391					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCTGCTGAGGGACCTGG	0.617																																						uc001vsu.2		NA																	0				ovary(1)|kidney(1)	2						c.(1252-1254)CTG>CTA		MCF.2 cell line derived transforming							70.0	69.0	69.0					13																	113728844		2203	4300	6503	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113728844G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1173G>A	13.37:g.113728844G>A						MCF2L_uc001vsq.2_Silent_p.L418L|MCF2L_uc010tjr.1_Silent_p.L361L|MCF2L_uc001vsr.2_Silent_p.L365L|MCF2L_uc001vss.3_Silent_p.L359L|MCF2L_uc010tjs.1_Silent_p.L359L|MCF2L_uc001vst.1_Silent_p.L323L	p.L418L	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			10	1276	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	391			Spectrin.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.1254G>A		.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352262	0.05173	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.77	3.01	0.34805	.	.	.	.	.	T	0.55000	0.1893	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49661	-0.8916	4	.	.	.	.	6.3081	0.21149	0.157:0.0:0.6982:0.1448	.	.	.	.	K	22	.	.	E	+	1	0	MCF2L	112776845	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.716000	0.37981	1.000000	0.39049	-0.136000	0.14681	GAG		0.617	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			11	76	0	0	0	0	11	76				
PCNX	22990	broad.mit.edu	37	14	71517433	71517433	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:71517433G>T	ENST00000304743.2	+	23	4849	c.4403G>T	c.(4402-4404)tGg>tTg	p.W1468L	PCNX_ENST00000439984.3_Missense_Mutation_p.W1357L|PCNX_ENST00000238570.5_Missense_Mutation_p.W1468L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1468						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGATCACATGGGGTTCTGCT	0.388																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(4402-4404)TGG>TTG		pecanex-like 1							161.0	159.0	159.0					14																	71517433		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71517433G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4403G>T	14.37:g.71517433G>T	ENSP00000304192:p.Trp1468Leu					PCNX_uc010are.1_Missense_Mutation_p.W1357L|PCNX_uc010arf.1_Missense_Mutation_p.W328L	p.W1468L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	23	4849	+			1468					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4403G>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.02|19.02	3.745147|3.745147	0.69418|0.69418	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.15487	.|2.73;2.44;2.42	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50274|0.50274	0.1606|0.1606	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;0.999	.|D;D;D	.|0.91635	.|0.994;0.999;0.994	T|T	0.53767|0.53767	-0.8392|-0.8392	5|10	.|0.87932	.|D	.|0	.|.	20.1374|20.1374	0.98035|0.98035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1468;1357;1468	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	W|L	527|1468;1468;1357	.|ENSP00000304192:W1468L;ENSP00000238570:W1468L;ENSP00000396617:W1357L	.|ENSP00000238570:W1468L	G|W	+|+	1|2	0|0	PCNX|PCNX	70587186|70587186	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.964000|0.964000	0.63967|0.63967	9.813000|9.813000	0.99286|0.99286	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	GGG|TGG		0.388	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		84	31	1	0	6.16e-50	7.01e-50	84	31				
DICER1	23405	broad.mit.edu	37	14	95570037	95570037	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:95570037G>A	ENST00000526495.1	-	23	3987	c.3696C>T	c.(3694-3696)agC>agT	p.S1232S	DICER1_ENST00000393063.1_Silent_p.S1232S|DICER1_ENST00000527414.1_Silent_p.S1232S|DICER1_ENST00000343455.3_Silent_p.S1232S|DICER1_ENST00000556045.1_Silent_p.S130S|DICER1_ENST00000541352.1_Silent_p.S1232S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1232					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATTCATCGCTGGGCTGGG	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3694-3696)AGC>AGT		dicer1							132.0	129.0	130.0					14																	95570037		2203	4300	6503	SO:0001819	synonymous_variant	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95570037G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3696C>T	14.37:g.95570037G>A						DICER1_uc010avh.1_Silent_p.S130S|DICER1_uc001ydv.2_Silent_p.S1222S|DICER1_uc001ydx.2_Silent_p.S1232S|DICER1_uc001ydy.1_Silent_p.S84S	p.S1232S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	22	3878	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1232					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.3696C>T	CCDS9931.1																																																																																				0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			39	77	0	0	0	0	39	77				
IGF1R	3480	broad.mit.edu	37	15	99250815	99250815	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:99250815G>T	ENST00000268035.6	+	2	730	c.119G>T	c.(118-120)cGc>cTc	p.R40L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R40L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	40					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ATCGACATCCGCAACGACTAT	0.502																																						uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(118-120)CGC>CTC		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						55.0	46.0	49.0					15																	99250815		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99250815G>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.119G>T	15.37:g.99250815G>T	ENSP00000268035:p.Arg40Leu					IGF1R_uc010urq.1_Missense_Mutation_p.R40L|IGF1R_uc010bon.2_Missense_Mutation_p.R40L	p.R40L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	169	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		40					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.119G>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853267	0.91355	.	.	ENSG00000140443	ENST00000268035	D	0.82893	-1.66	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000042	D	0.90985	0.7165	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.74674	0.739;0.984	D	0.91540	0.5249	10	0.87932	D	0	.	18.7192	0.91687	0.0:0.0:1.0:0.0	.	40;40	C9J5X1;P08069	.;IGF1R_HUMAN	L	40	ENSP00000268035:R40L	ENSP00000268035:R40L	R	+	2	0	IGF1R	97068338	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.667000	0.98616	2.727000	0.93392	0.655000	0.94253	CGC		0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		10	11	1	0	2.27e-07	2.47e-07	10	11				
RNPS1	10921	broad.mit.edu	37	16	2314602	2314602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:2314602T>C	ENST00000565678.1	-	2	588	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	RNPS1_ENST00000566458.1_Intron|RNPS1_ENST00000397086.2_Missense_Mutation_p.K15E|RNPS1_ENST00000568631.1_Missense_Mutation_p.K15E|RNPS1_ENST00000320225.5_Missense_Mutation_p.K15E|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000561718.1_Intron|RNPS1_ENST00000566397.1_5'Flank|RNPS1_ENST00000569598.2_Missense_Mutation_p.K15E|RNPS1_ENST00000301730.8_Missense_Mutation_p.K15E			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	15	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTATTTTCTTTGACTCCTAGC	0.443																																						uc002cpt.2		NA																	0				ovary(1)	1						c.(43-45)AAA>GAA		RNA-binding protein S1, serine-rich domain							131.0	127.0	128.0					16																	2314602		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2314602T>C	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.43A>G	16.37:g.2314602T>C	ENSP00000457723:p.Lys15Glu					RNPS1_uc002cpu.2_Missense_Mutation_p.K15E|RNPS1_uc002cpv.2_Intron|RNPS1_uc002cpw.2_Missense_Mutation_p.K15E|RNPS1_uc002cpx.2_Intron|RNPS1_uc010uwa.1_Intron	p.K15E	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			2	589	-			15			Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Lys-rich.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.43A>G	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572366	0.65765	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.08193	3.12;3.12;3.12	6.03	6.03	0.97812	.	0.066142	0.64402	D	0.000007	T	0.13500	0.0327	L	0.38175	1.15	0.80722	D	1	P	0.46578	0.88	P	0.50270	0.636	T	0.00632	-1.1635	10	0.72032	D	0.01	-19.109	12.9467	0.58376	0.0:0.0:0.0:1.0	.	15	Q15287	RNPS1_HUMAN	E	15	ENSP00000315859:K15E;ENSP00000380275:K15E;ENSP00000301730:K15E	ENSP00000301730:K15E	K	-	1	0	RNPS1	2254603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.828000	0.48120	2.310000	0.77875	0.450000	0.29827	AAA		0.443	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		22	43	0	0	0	0	22	43				
ZNF646	9726	broad.mit.edu	37	16	31091299	31091299	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:31091299C>T	ENST00000394979.2	+	1	4077	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZNF646_ENST00000300850.5_Silent_p.L1218L			O15015	ZN646_HUMAN	zinc finger protein 646	1218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCGGCAGCCTCATCAACCACC	0.637																																						uc002eap.2		NA																	0				breast(2)	2						c.(3652-3654)CTC>CTT		zinc finger protein 646							30.0	33.0	32.0					16																	31091299		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31091299C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3654C>T	16.37:g.31091299C>T							p.L1218L	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	3943	+			1218			C2H2-type 20.		Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3654C>T																																																																																					0.637	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		5	24	0	0	0	0	5	24				
SALL1	6299	broad.mit.edu	37	16	51174003	51174003	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:51174003G>A	ENST00000251020.4	-	2	2163	c.2130C>T	c.(2128-2130)atC>atT	p.I710I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.I613I|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	710					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCGGTGGCAGATGATGCACT	0.542																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(2128-2130)ATC>ATT		sal-like 1 isoform a							75.0	77.0	76.0					16																	51174003		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174003G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2130C>T	16.37:g.51174003G>A						SALL1_uc010vgr.1_Silent_p.I613I|SALL1_uc010cbv.2_Intron	p.I710I	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2161	-		all_cancers(37;0.0322)	710			C2H2-type 3.		Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.2130C>T	CCDS10747.1																																																																																				0.542	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		28	49	0	0	0	0	28	49				
GPR97	222487	broad.mit.edu	37	16	57719693	57719693	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:57719693G>A	ENST00000333493.4	+	11	1556	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	GPR97_ENST00000450388.3_Silent_p.A345A|GPR97_ENST00000327655.6_Silent_p.A255A|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	465				A -> V (in Ref. 4; AAH64508). {ECO:0000305}.	neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A465A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGCTACAGCGGTCAAGGAGC	0.607																																						uc002emh.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1393-1395)GCG>GCA		G protein-coupled receptor 97 precursor							129.0	108.0	115.0					16																	57719693		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57719693G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1395G>A	16.37:g.57719693G>A						GPR97_uc010vhv.1_Silent_p.A345A|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.A73A	p.A465A	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			11	1498	+			465	A -> V (in Ref. 4; AAH64508).		Cytoplasmic (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1395G>A	CCDS10786.1																																																																																				0.607	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		8	48	0	0	0	0	8	48				
PLA2G15	23659	broad.mit.edu	37	16	68289698	68289698	+	Missense_Mutation	SNP	C	C	T	rs374139093		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:68289698C>T	ENST00000219345.5	+	5	615	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	PLA2G15_ENST00000413021.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Intron|PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000569843.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	178					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTGGCCCTCCGCGAGATGAT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17775	0.0		0.001	False		,,,				2504	0.0					uc002evr.2		NA																	0				ovary(1)	1						c.(532-534)CGC>TGC		lysophospholipase 3 (lysosomal phospholipase A2)		C	CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	49.0	52.0	51.0		532	6.0	1.0	16		51	0,8600		0,0,4300	no	missense	PLA2G15	NM_012320.3	180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	178/413	68289698	1,12995	2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289698C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.532C>T	16.37:g.68289698C>T	ENSP00000219345:p.Arg178Cys					PLA2G15_uc010vld.1_Intron|PLA2G15_uc010vle.1_Intron|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_5'UTR	p.R178C	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN			5	615	+			178					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.532C>T	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416061	0.83449	2.27E-4	0.0	ENSG00000103066	ENST00000219345	D	0.95756	-3.8	5.97	5.97	0.96955	.	0.163970	0.56097	D	0.000021	D	0.97448	0.9165	M	0.78456	2.415	0.80722	D	1	D	0.71674	0.998	P	0.60886	0.88	D	0.97548	1.0090	10	0.87932	D	0	-3.1834	20.0384	0.97572	0.0:1.0:0.0:0.0	.	178	Q8NCC3	PAG15_HUMAN	C	178	ENSP00000219345:R178C	ENSP00000219345:R178C	R	+	1	0	PLA2G15	66847199	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	3.036000	0.49767	2.837000	0.97791	0.655000	0.94253	CGC		0.607	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		16	38	0	0	0	0	16	38				
TANGO6	79613	broad.mit.edu	37	16	69056846	69056846	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:69056846G>C	ENST00000261778.1	+	16	2970	c.2958G>C	c.(2956-2958)caG>caC	p.Q986H		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	986						integral component of membrane (GO:0016021)											AGCTGTGCCAGAGGCTGGACT	0.522																																						uc002ewi.3		NA																	0					0						c.(2956-2958)CAG>CAC		transmembrane and coiled-coil domains 7							43.0	45.0	44.0					16																	69056846		1941	4156	6097	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:69056846G>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2958G>C	16.37:g.69056846G>C	ENSP00000261778:p.Gln986His						p.Q986H	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	16	2970	+		Ovarian(137;0.0568)	986			HEAT 2.		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2958G>C	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683440	0.29872	.	.	ENSG00000103047	ENST00000261778	T	0.65732	-0.17	4.31	1.2	0.21068	Armadillo-like helical (1);Armadillo-type fold (1);	0.250989	0.39407	N	0.001370	T	0.74207	0.3686	M	0.71581	2.175	0.49582	D	0.999808	D	0.71674	0.998	D	0.79784	0.993	T	0.73097	-0.4090	10	0.66056	D	0.02	-11.6004	10.8629	0.46837	0.2498:0.0:0.7502:0.0	.	986	Q9C0B7	TMCO7_HUMAN	H	986	ENSP00000261778:Q986H	ENSP00000261778:Q986H	Q	+	3	2	TMCO7	67614347	0.998000	0.40836	0.970000	0.41538	0.292000	0.27327	2.427000	0.44740	-0.002000	0.14469	-1.744000	0.00683	CAG		0.522	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		4	13	0	0	0	0	4	13				
KCNG4	93107	broad.mit.edu	37	16	84255948	84255948	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr16:84255948G>T	ENST00000308251.4	-	3	1503	c.1435C>A	c.(1435-1437)Caa>Aaa	p.Q479K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	479					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCGGTGTTTTGGAGGTGGCGG	0.587																																						uc010voc.1		NA																	0				breast(3)	3						c.(1435-1437)CAA>AAA		potassium voltage-gated channel, subfamily G,							108.0	114.0	112.0					16																	84255948		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84255948G>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1435C>A	16.37:g.84255948G>T	ENSP00000312129:p.Gln479Lys						p.Q479K	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			3	1556	-			479			Cytoplasmic (Potential).		Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1435C>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	3.194	-0.165213	0.06461	.	.	ENSG00000168418	ENST00000308251	D	0.96232	-3.95	4.74	4.74	0.60224	.	5.289350	0.00481	N	0.000138	D	0.93782	0.8012	L	0.45581	1.43	0.25580	N	0.986802	B	0.06786	0.001	B	0.06405	0.002	T	0.79145	-0.1924	10	0.02654	T	1	.	10.5804	0.45252	0.0:0.0:0.6981:0.3019	.	479	Q8TDN1	KCNG4_HUMAN	K	479	ENSP00000312129:Q479K	ENSP00000312129:Q479K	Q	-	1	0	KCNG4	82813449	0.309000	0.24518	0.692000	0.30179	0.153000	0.21895	2.108000	0.41854	2.452000	0.82932	0.563000	0.77884	CAA		0.587	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		34	103	1	0	1.42e-22	1.61e-22	34	103				
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004908	TP53	M		c.(1024-1026)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*	p.R342*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1218	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	8	0	0	0	0	20	8				
AP2B1	163	broad.mit.edu	37	17	34001260	34001260	+	Silent	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:34001260G>A	ENST00000262325.7	+	16	2755	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Silent_p.G748G|AP2B1_ENST00000537622.2_Silent_p.G748G|AP2B1_ENST00000312678.8_Silent_p.G748G|AP2B1_ENST00000592545.1_Silent_p.G710G|AP2B1_ENST00000538556.1_Silent_p.G677G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	734					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCGCCAAGGGCACATCTATA	0.418																																						uc002hjr.2		NA																	0				ovary(1)	1						c.(2200-2202)GGG>GGA		adaptor-related protein complex 2, beta 1							133.0	128.0	129.0					17																	34001260		2203	4300	6503	SO:0001819	synonymous_variant	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:34001260G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2202G>A	17.37:g.34001260G>A						AP2B1_uc002hjq.2_Silent_p.G748G|AP2B1_uc010wci.1_Silent_p.G710G|AP2B1_uc002hjs.2_Silent_p.G677G|AP2B1_uc002hjt.2_Silent_p.G748G|AP2B1_uc010ctv.2_Silent_p.G748G|AP2B1_uc010wcj.1_Silent_p.G485G	p.G734G	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	16	2391	+		Ovarian(249;0.17)	734					A6NJP3|P21851|Q7Z451|Q96J19	Silent	SNP	ENST00000262325.7	37	c.2202G>A	CCDS32622.1																																																																																				0.418	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			43	99	0	0	0	0	43	99				
CASC3	22794	broad.mit.edu	37	17	38320341	38320341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:38320341G>A	ENST00000264645.7	+	7	1619	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	465	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						ACTTGAGCAAGATGTGGCACA	0.517																																						uc010cwt.1		NA																	0				ovary(1)	1						c.(1393-1395)GAT>AAT		metastatic lymph node 51							53.0	49.0	51.0					17																	38320341		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320341G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1393G>A	17.37:g.38320341G>A	ENSP00000264645:p.Asp465Asn					CASC3_uc010cws.1_Missense_Mutation_p.D465N|CASC3_uc002hue.2_Missense_Mutation_p.D465N	p.D465N	NM_007359	NP_031385	O15234	CASC3_HUMAN			7	1688	+			465			Necessary for localization in cytoplasmic stress granules.|Nuclear export signal.		A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1393G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379572	0.42207	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	5.08	0.68730	.	0.193900	0.53938	D	0.000057	T	0.44265	0.1285	N	0.19112	0.55	0.58432	D	0.999999	P;P	0.46395	0.877;0.877	P;B	0.45829	0.494;0.417	T	0.22661	-1.0210	9	0.20046	T	0.44	-15.5614	18.2812	0.90098	0.0:0.0:1.0:0.0	.	465;465	B4DKR6;O15234	.;CASC3_HUMAN	N	465	.	ENSP00000264645:D465N	D	+	1	0	CASC3	35573867	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	7.716000	0.84723	2.648000	0.89879	0.563000	0.77884	GAT		0.517	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		4	30	0	0	0	0	4	30				
ITGA3	3675	broad.mit.edu	37	17	48145460	48145460	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:48145460C>T	ENST00000320031.8	+	4	785	c.455C>T	c.(454-456)tCa>tTa	p.S152L	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.S152L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	152					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGTCAGGGTCAGAAGACCAG	0.617																																						uc010dbl.2		NA																	0				ovary(2)|pancreas(1)	3						c.(454-456)TCA>TTA		integrin alpha 3 isoform a precursor							96.0	91.0	92.0					17																	48145460		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145460C>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.455C>T	17.37:g.48145460C>T	ENSP00000315190:p.Ser152Leu					ITGA3_uc010dbm.2_Missense_Mutation_p.S152L	p.S152L	NM_002204	NP_002195	P26006	ITA3_HUMAN			4	919	+			152			FG-GAP 2.|Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.455C>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756592	0.31137	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.44482	0.92;0.92	5.15	-0.144	0.13440	.	2.870750	0.00807	N	0.001477	T	0.33411	0.0862	L	0.39147	1.195	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.09058	-1.0692	10	0.37606	T	0.19	.	3.5454	0.07827	0.3826:0.3132:0.0:0.3042	.	152;152	P26006-1;P26006	.;ITA3_HUMAN	L	152;138;152	ENSP00000007722:S152L;ENSP00000315190:S152L	ENSP00000007722:S152L	S	+	2	0	ITGA3	45500459	0.000000	0.05858	0.003000	0.11579	0.969000	0.65631	-2.557000	0.00924	-0.274000	0.09232	0.650000	0.86243	TCA		0.617	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		25	82	0	0	0	0	25	82				
RNMT	8731	broad.mit.edu	37	18	13741657	13741657	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:13741657T>C	ENST00000383314.2	+	7	1181	c.941T>C	c.(940-942)tTt>tCt	p.F314S	RNMT_ENST00000535051.1_Missense_Mutation_p.F72S|RNMT_ENST00000592764.1_Missense_Mutation_p.F314S|RNMT_ENST00000589866.1_Missense_Mutation_p.F314S|RNMT_ENST00000543302.2_Missense_Mutation_p.F314S|RNMT_ENST00000262173.3_Missense_Mutation_p.F314S			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	314	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GGGGGCTATTTTATTGGTACT	0.363																																					GBM(29;474 594 19092 36647 41529)	uc002ksk.1		NA																	0					0						c.(940-942)TTT>TCT		RNA (guanine-7-) methyltransferase							95.0	96.0	96.0					18																	13741657		2203	4300	6503	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13741657T>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.941T>C	18.37:g.13741657T>C	ENSP00000372804:p.Phe314Ser					RNMT_uc002ksl.1_Missense_Mutation_p.F314S|RNMT_uc002ksm.1_Missense_Mutation_p.F314S|RNMT_uc010dlk.2_Missense_Mutation_p.F314S|RNMT_uc010xae.1_RNA	p.F314S	NM_003799	NP_003790	O43148	MCES_HUMAN			6	1008	+			314					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.941T>C	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.314861	0.81358	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.61	4.42	0.53409	.	0.043942	0.85682	D	0.000000	D	0.85309	0.5667	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87932	0.2711	9	0.87932	D	0	-18.5621	12.6384	0.56696	0.0:0.0:0.1384:0.8616	.	314;314	O43148-2;O43148	.;MCES_HUMAN	S	314;72;314;314	.	ENSP00000262173:F314S	F	+	2	0	RNMT	13731657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.465000	0.80898	0.923000	0.37045	0.482000	0.46254	TTT		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		11	50	0	0	0	0	11	50				
CDH7	1005	broad.mit.edu	37	18	63511084	63511084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63511084C>T	ENST00000397968.2	+	7	1444	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	CDH7_ENST00000323011.3_Missense_Mutation_p.R340W|CDH7_ENST00000536984.2_Missense_Mutation_p.R340W	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	340	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACACGCTACGGATAGAAGC	0.423																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1018-1020)CGG>TGG		cadherin 7, type 2 preproprotein							106.0	102.0	103.0					18																	63511084		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511084C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1018C>T	18.37:g.63511084C>T	ENSP00000381058:p.Arg340Trp					CDH7_uc002lka.2_Missense_Mutation_p.R340W|CDH7_uc002lkb.2_Missense_Mutation_p.R340W	p.R340W	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1343	+		Esophageal squamous(42;0.129)	340			Extracellular (Potential).|Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1018C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338222	0.60963	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.52526	0.66;0.66;0.66	5.04	3.16	0.36331	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.78049	2.395	0.22779	N	0.998744	D;D	0.89917	0.999;1.0	D;D	0.74348	0.963;0.983	T	0.61372	-0.7076	10	0.87932	D	0	.	12.8624	0.57922	0.6112:0.3888:0.0:0.0	.	340;340	F5H5X9;Q9ULB5	.;CADH7_HUMAN	W	340	ENSP00000319166:R340W;ENSP00000443030:R340W;ENSP00000381058:R340W	ENSP00000319166:R340W	R	+	1	2	CDH7	61662064	1.000000	0.71417	0.218000	0.23776	0.988000	0.76386	3.255000	0.51484	0.748000	0.32831	0.655000	0.94253	CGG		0.423	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		14	26	0	0	0	0	14	26				
CDH7	1005	broad.mit.edu	37	18	63547695	63547695	+	Silent	SNP	C	C	T	rs183960485	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr18:63547695C>T	ENST00000397968.2	+	12	2349	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	CDH7_ENST00000323011.3_Silent_p.D641D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	641					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTATTTTTGACGAAGAAAGAG	0.443													C|||	10	0.00199681	0.0	0.0	5008	,	,		18292	0.002		0.0	False		,,,				2504	0.0082					uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1921-1923)GAC>GAT		cadherin 7, type 2 preproprotein							63.0	65.0	64.0					18																	63547695		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547695C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1923C>T	18.37:g.63547695C>T						CDH7_uc002lkb.2_Silent_p.D641D	p.D641D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2248	+		Esophageal squamous(42;0.129)	641			Cytoplasmic (Potential).		Q9H157	Silent	SNP	ENST00000397968.2	37	c.1923C>T	CCDS11993.1																																																																																				0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		8	24	0	0	0	0	8	24				
F2RL3	9002	broad.mit.edu	37	19	17004117	17004117	+	IGR	SNP	G	G	A	rs370773533		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:17004117G>A	ENST00000248076.3	+	0	3473				CPAMD8_ENST00000443236.1_Silent_p.S1867S|CPAMD8_ENST00000597335.1_5'Flank	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3						blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGGTTCCCGCTGCTCACAG	0.642																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(5599-5601)AGC>AGT		C3 and PZP-like, alpha-2-macroglobulin domain		A		0,3790		0,0,1895	11.0	13.0	12.0		5601	-2.0	0.0	19		12	1,8191		0,1,4095	no	coding-synonymous	CPAMD8	NM_015692.2		0,1,5990	AA,AG,GG		0.0122,0.0,0.0083		1867/1933	17004117	1,11981	1895	4096	5991	SO:0001628	intergenic_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17004117G>A	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0			19.37:g.17004117G>A						CPAMD8_uc010xpj.1_3'UTR|CPAMD8_uc002nfd.1_3'UTR	p.S1867S	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			42	5633	-			1820					O76067|Q6DK42	Silent	SNP	ENST00000248076.3	37	c.5601C>T	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	g	1.276	-0.611589	0.03690	0.0	1.22E-4	ENSG00000160111	ENST00000443236	.	.	.	1.02	-2.04	0.07343	.	.	.	.	.	T	0.22936	0.0554	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28138	-1.0053	4	.	.	.	.	4.7256	0.12939	0.7422:0.0:0.2578:0.0	.	.	.	.	V	1878	.	.	A	-	2	0	CPAMD8	16865117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.552000	0.06020	-0.741000	0.04797	-1.193000	0.01689	GCG		0.642	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			3	2	0	0	0	0	3	2				
CLPTM1	1209	broad.mit.edu	37	19	45496031	45496031	+	Missense_Mutation	SNP	C	C	T	rs148362509	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:45496031C>T	ENST00000337392.5	+	14	2036	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	CLPTM1_ENST00000546079.1_Missense_Mutation_p.T527M|CLPTM1_ENST00000541297.2_Missense_Mutation_p.T615M	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	629					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCACCCACCACGACCACCGCC	0.697													c|||	3	0.000599042	0.0023	0.0	5008	,	,		12363	0.0		0.0	False		,,,				2504	0.0					uc002pai.2		NA																	0				ovary(1)	1						c.(1885-1887)ACG>ATG		cleft lip and palate associated transmembrane		T	MET/THR	3,4401	6.2+/-15.9	0,3,2199	54.0	59.0	57.0		1886	0.5	0.0	19	dbSNP_134	57	0,8598		0,0,4299	no	missense	CLPTM1	NM_001294.2	81	0,3,6498	TT,TC,CC		0.0,0.0681,0.0231	benign	629/670	45496031	3,12999	2202	4299	6501	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45496031C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1886C>T	19.37:g.45496031C>T	ENSP00000336994:p.Thr629Met					CLPTM1_uc010xxf.1_Missense_Mutation_p.T527M|CLPTM1_uc010xxg.1_Missense_Mutation_p.T615M	p.T629M	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	1901	+		all_neural(266;0.224)|Ovarian(192;0.231)	629			Cytoplasmic (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1886C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	c	7.608	0.674243	0.14841	6.81E-4	0.0	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	3.87	0.529	0.17095	.	1.962470	0.01859	N	0.036463	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	P;B	0.36733	0.567;0.173	B;B	0.29077	0.098;0.045	T	0.14282	-1.0478	9	0.48119	T	0.1	-6.2189	4.2897	0.10872	0.0:0.6002:0.1886:0.2112	.	615;629	F5H8J3;O96005	.;CLPT1_HUMAN	M	527;615;629;629	.	ENSP00000336994:T629M	T	+	2	0	CLPTM1	50187871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.548000	0.23314	0.231000	0.21079	-0.816000	0.03127	ACG		0.697	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		5	35	0	0	0	0	5	35				
ZNF347	84671	broad.mit.edu	37	19	53644779	53644779	+	Silent	SNP	G	G	A	rs77716783	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr19:53644779G>A	ENST00000334197.7	-	5	1370	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	ZNF347_ENST00000601469.2_Silent_p.C435C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.C435C	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGCTTTGCCGCACTCATTAC	0.423													G|||	6	0.00119808	0.0	0.0	5008	,	,		22122	0.005		0.001	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(1300-1302)TGC>TGT		zinc finger protein 347		G	,,	0,4406		0,0,2203	130.0	130.0	130.0		1305,1305,1302	0.6	0.0	19	dbSNP_132	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	435/841,435/841,434/840	53644779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644779G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1302C>T	19.37:g.53644779G>A						ZNF347_uc010eql.1_Silent_p.C435C|ZNF347_uc002qbc.1_Silent_p.C435C	p.C434C	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1371	-			434			C2H2-type 7.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1302C>T	CCDS33097.1																																																																																				0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		38	51	0	0	0	0	38	51				
MTA3	57504	broad.mit.edu	37	2	42836614	42836614	+	Missense_Mutation	SNP	A	A	C	rs201096010		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:42836614A>C	ENST00000405094.1	+	4	207	c.207A>C	c.(205-207)gaA>gaC	p.E69D	MTA3_ENST00000406911.1_Missense_Mutation_p.E69D|MTA3_ENST00000405592.1_Missense_Mutation_p.E13D|MTA3_ENST00000407270.3_Missense_Mutation_p.E69D|MTA3_ENST00000406652.1_Missense_Mutation_p.E13D			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	69	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTGAGGAAGAATCTGAAACAA	0.343																																						uc002rso.1		NA																	0				ovary(2)	2						c.(37-39)GAA>GAC		metastasis associated 1 family, member 3		A	ASP/GLU	6,3690		0,6,1842	70.0	68.0	69.0		207	1.6	1.0	2		69	25,8167		0,25,4071	yes	missense	MTA3	NM_020744.2	45	0,31,5913	CC,CA,AA		0.3052,0.1623,0.2608	benign	69/516	42836614	31,11857	1848	4096	5944	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42836614A>C	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.207A>C	2.37:g.42836614A>C	ENSP00000385823:p.Glu69Asp					MTA3_uc002rsp.1_Missense_Mutation_p.E13D|MTA3_uc002rsq.2_Missense_Mutation_p.E69D|MTA3_uc002rsr.2_Missense_Mutation_p.E69D	p.E13D	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			5	709	+			69			BAH.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.39A>C		.	.	.	.	.	.	.	.	.	.	A	14.61	2.588056	0.46110	0.001623	0.003052	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094;ENST00000433553	T;T;T;T;T	0.49139	0.79;0.79;0.83;0.82;0.81	5.31	1.61	0.23674	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.50333	1.59	0.40461	D	0.980245	D;P;D	0.76494	0.993;0.779;0.999	D;P;D	0.69307	0.946;0.647;0.963	T	0.48736	-0.9009	10	0.28530	T	0.3	-24.6239	8.8085	0.34952	0.7011:0.0:0.2989:0.0	.	69;69;13	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	D	13;13;69;69;69;69;13	ENSP00000383973:E13D;ENSP00000384249:E13D;ENSP00000385045:E69D;ENSP00000385241:E69D;ENSP00000385823:E69D	ENSP00000282366:E69D	E	+	3	2	MTA3	42690118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.762000	0.47597	0.311000	0.23014	0.459000	0.35465	GAA		0.343	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		5	33	0	0	0	0	5	33				
HS6ST1	9394	broad.mit.edu	37	2	129026288	129026288	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:129026288C>T	ENST00000259241.6	-	2	697	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	228					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGACCAGTCCGTGCCCTCGT	0.662																																						uc002tpt.3		NA																	0				pancreas(1)	1						c.(682-684)ACG>ACA		heparan sulfate 6-O-sulfotransferase 1							42.0	53.0	49.0					2																	129026288		2162	4275	6437	SO:0001819	synonymous_variant	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026288C>T	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.684G>A	2.37:g.129026288C>T							p.T228T	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	718	-	Colorectal(110;0.1)		228			Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	ENST00000259241.6	37	c.684G>A	CCDS42748.1																																																																																				0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		6	62	0	0	0	0	6	62				
SCN1A	6323	broad.mit.edu	37	2	166908262	166908262	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:166908262C>G	ENST00000303395.4	-	6	930	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E311Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.E311Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E311Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	311					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTCAAACTCAAAGACAGTT	0.303																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(931-933)GAG>CAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						52.0	54.0	53.0					2																	166908262		2202	4297	6499	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908262C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.931G>C	2.37:g.166908262C>G	ENSP00000303540:p.Glu311Gln					SCN1A_uc002udo.3_Missense_Mutation_p.E180Q|SCN1A_uc010fpk.2_Missense_Mutation_p.E180Q	p.E311Q	NM_006920	NP_008851	P35498	SCN1A_HUMAN			6	949	-			311			I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.931G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	3.212	-0.161439	0.06502	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96200	-3.94;-3.94;-3.89;-3.88	5.41	4.53	0.55603	Ion transport (1);	0.392297	0.24220	N	0.040447	D	0.90872	0.7132	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.27316	0.145;0.175;0.144	B;B;B	0.39617	0.02;0.305;0.078	T	0.80144	-0.1505	10	0.13853	T	0.58	.	6.8657	0.24093	0.0:0.6498:0.1889:0.1613	.	311;311;311	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	311	ENSP00000407030:E311Q;ENSP00000303540:E311Q;ENSP00000364554:E311Q;ENSP00000386312:E311Q	ENSP00000303540:E311Q	E	-	1	0	SCN1A	166616508	0.512000	0.26186	0.546000	0.28166	0.607000	0.37147	0.999000	0.29757	1.415000	0.47037	-0.140000	0.14226	GAG		0.303	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		4	21	0	0	0	0	4	21				
TTN	7273	broad.mit.edu	37	2	179417913	179417913	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179417913T>C	ENST00000591111.1	-	285	85015	c.84791A>G	c.(84790-84792)aAt>aGt	p.N28264S	TTN_ENST00000359218.5_Missense_Mutation_p.N20965S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N29905S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N21032S|TTN_ENST00000460472.2_Missense_Mutation_p.N20840S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N27337S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28264	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTATCATTGCGAGTAAC	0.408																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(82009-82011)AAT>AGT		titin isoform N2-A							164.0	160.0	161.0					2																	179417913		1928	4127	6055	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417913T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84791A>G	2.37:g.179417913T>C	ENSP00000465570:p.Asn28264Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21032S|TTN_uc010zfi.1_Missense_Mutation_p.N20965S|TTN_uc010zfj.1_Missense_Mutation_p.N20840S	p.N27337S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82234	-			28264					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82010A>G		.	.	.	.	.	.	.	.	.	.	T	16.24	3.066569	0.55539	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.39	5.39	0.77823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26231	0.0640	N	0.12831	0.26	0.40755	D	0.982957	B;B;B;B	0.21147	0.052;0.052;0.052;0.052	B;B;B;B	0.24701	0.055;0.055;0.055;0.055	T	0.11591	-1.0581	9	0.87932	D	0	.	15.708	0.77602	0.0:0.0:0.0:1.0	.	20840;20965;21032;28264	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	27337;20840;21032;20965;20837	ENSP00000343764:N27337S;ENSP00000434586:N20840S;ENSP00000340554:N21032S;ENSP00000352154:N20965S	ENSP00000340554:N21032S	N	-	2	0	TTN	179126159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.221000	0.58574	2.163000	0.67991	0.533000	0.62120	AAT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	81	0	0	0	0	8	81				
CCDC141	285025	broad.mit.edu	37	2	179730517	179730517	+	Missense_Mutation	SNP	C	C	T	rs139607358	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:179730517C>T	ENST00000420890.2	-	17	2818	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	CCDC141_ENST00000295723.5_Missense_Mutation_p.A326T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	901										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCTCATGGCGCAGTACTCC	0.532													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19581	0.0		0.0	False		,,,				2504	0.0					uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(976-978)GCC>ACC		coiled-coil domain containing 141		C	THR/ALA	11,4395	17.9+/-39.9	0,11,2192	363.0	326.0	339.0		2701	-3.2	0.0	2	dbSNP_134	339	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC141	NM_173648.3	58	0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923	benign	901/1531	179730517	12,12994	2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730517C>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2701G>A	2.37:g.179730517C>T	ENSP00000395995:p.Ala901Thr						p.A326T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	1033	-			326			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.976G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.263	0.605627	0.14002	0.002497	1.16E-4	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.43294	0.95;1.34;1.34;1.6	6.07	-3.17	0.05202	.	1.097870	0.06882	N	0.802643	T	0.12305	0.0299	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30909	-0.9962	10	0.07175	T	0.84	1.3125	6.4229	0.21754	0.1061:0.3182:0.0:0.5756	.	326	Q6ZP82	CC141_HUMAN	T	901;345;326;901	ENSP00000395995:A901T;ENSP00000344627:A345T;ENSP00000295723:A326T;ENSP00000390190:A901T	ENSP00000295723:A326T	A	-	1	0	CCDC141	179438762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.057000	0.11768	-0.302000	0.08869	-0.808000	0.03180	GCC		0.532	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		45	192	0	0	0	0	45	192				
ZNF804A	91752	broad.mit.edu	37	2	185802876	185802876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:185802876T>C	ENST00000302277.6	+	4	3347	c.2753T>C	c.(2752-2754)gTc>gCc	p.V918A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	918							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCACATCTGTCTGTGTAGCT	0.388																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2752-2754)GTC>GCC		zinc finger protein 804A							93.0	90.0	91.0					2																	185802876		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802876T>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2753T>C	2.37:g.185802876T>C	ENSP00000303252:p.Val918Ala						p.V918A	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3347	+			918					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2753T>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	2.172	-0.389576	0.04932	.	.	ENSG00000170396	ENST00000302277	T	0.06933	3.24	5.47	-0.151	0.13411	.	1.663530	0.03558	N	0.226519	T	0.06645	0.0170	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42413	-0.9453	10	0.25106	T	0.35	3.2681	10.4858	0.44722	0.0:0.3755:0.0:0.6245	.	918	Q7Z570	Z804A_HUMAN	A	918	ENSP00000303252:V918A	ENSP00000303252:V918A	V	+	2	0	ZNF804A	185511121	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.506000	0.22658	-0.245000	0.09625	0.482000	0.46254	GTC		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		11	64	0	0	0	0	11	64				
CPS1	1373	broad.mit.edu	37	2	211471538	211471538	+	Missense_Mutation	SNP	C	C	T	rs147443001		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr2:211471538C>T	ENST00000233072.5	+	18	2261	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	CPS1_ENST00000451903.2_Missense_Mutation_p.R238C|CPS1_ENST00000430249.2_Missense_Mutation_p.R695C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	689	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAATGTTGTTCGCCACTTGGG	0.468																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(2065-2067)CGC>TGC		carbamoyl-phosphate synthetase 1 isoform b		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	170.0	146.0	154.0		2083,712,2065	5.8	1.0	2	dbSNP_134	154	0,8600		0,0,4300	no	missense,missense,missense	CPS1	NM_001122633.2,NM_001122634.2,NM_001875.4	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	695/1507,238/1050,689/1501	211471538	1,13005	2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471538C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2065C>T	2.37:g.211471538C>T	ENSP00000233072:p.Arg689Cys					CPS1_uc010fur.2_Missense_Mutation_p.R695C|CPS1_uc010fus.2_Missense_Mutation_p.R238C	p.R689C	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2197	+			689			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.2065C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199715	0.94997	2.27E-4	0.0	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97620	-4.46;-4.46;-4.46	5.83	5.83	0.93111	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98799	1.0739	10	0.87932	D	0	-7.1999	20.1952	0.98241	0.0:1.0:0.0:0.0	.	699;689	Q59HF8;P31327	.;CPSM_HUMAN	C	695;697;689;238	ENSP00000402608:R695C;ENSP00000233072:R689C;ENSP00000406136:R238C	ENSP00000233072:R689C	R	+	1	0	CPS1	211179783	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.774000	0.68906	2.781000	0.95711	0.586000	0.80456	CGC		0.468	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			10	48	0	0	0	0	10	48				
PYGB	5834	broad.mit.edu	37	20	25262744	25262744	+	Silent	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:25262744G>T	ENST00000216962.4	+	12	1589	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	493					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCCGGTGGCTGCTGCTGTGCA	0.592																																						uc002wup.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1477-1479)CTG>CTT		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						41.0	49.0	46.0					20																	25262744		2202	4300	6502	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25262744G>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1479G>T	20.37:g.25262744G>T							p.L493L	NM_002862	NP_002853	P11216	PYGB_HUMAN			12	1588	+			493					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.1479G>T	CCDS13171.1																																																																																				0.592	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		11	22	1	0	9.77e-05	0.000104143	11	22				
ZNFX1	57169	broad.mit.edu	37	20	47864939	47864939	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:47864939G>C	ENST00000396105.1	-	14	4868	c.4622C>G	c.(4621-4623)aCt>aGt	p.T1541S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1541S|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1541							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGCAGCTTAGTACAAGGCAC	0.572																																						uc002xui.2		NA																	0				ovary(2)	2						c.(4621-4623)ACT>AGT		zinc finger, NFX1-type containing 1							91.0	94.0	93.0					20																	47864939		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864939G>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4622C>G	20.37:g.47864939G>C	ENSP00000379412:p.Thr1541Ser						p.T1541S	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4869	-			1541					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4622C>G	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	1.865	-0.461595	0.04508	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.51325	0.71;0.71	6.04	5.09	0.68999	.	0.175429	0.49916	D	0.000131	T	0.29491	0.0735	N	0.11724	0.165	0.35700	D	0.815555	B	0.14438	0.01	B	0.10450	0.005	T	0.24870	-1.0148	10	0.10902	T	0.67	-18.2041	15.475	0.75471	0.0:0.0:0.8602:0.1398	.	1541	Q9P2E3	ZNFX1_HUMAN	S	1541	ENSP00000360817:T1541S;ENSP00000379412:T1541S	ENSP00000360817:T1541S	T	-	2	0	ZNFX1	47298346	0.702000	0.27816	1.000000	0.80357	0.997000	0.91878	1.772000	0.38552	1.554000	0.49487	0.561000	0.74099	ACT		0.572	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		43	60	0	0	0	0	43	60				
NELFCD	51497	broad.mit.edu	37	20	57568743	57568743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr20:57568743C>T	ENST00000344018.3	+	13	1559	c.1532C>T	c.(1531-1533)cCt>cTt	p.P511L	NELFCD_ENST00000602795.1_Missense_Mutation_p.P520L|NELFCD_ENST00000479207.1_Intron			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	511					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TATGTACTTCCTGTTGTCAGT	0.483																																						uc002yag.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1531-1533)CCT>CTT		TH1-like protein							192.0	171.0	178.0					20																	57568743		2203	4300	6503	SO:0001583	missense	51497				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	g.chr20:57568743C>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1532C>T	20.37:g.57568743C>T	ENSP00000342300:p.Pro511Leu					TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Intron	p.P511L	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Colorectal(105;0.109)		13	1559	+	all_lung(29;0.00711)		511					B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.1532C>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925034	0.92319	.	.	ENSG00000101158	ENST00000344018	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.88105	2.93	0.80722	D	1	D	0.58970	0.984	P	0.56343	0.796	D	0.84817	0.0794	9	0.87932	D	0	-27.3237	17.6664	0.88203	0.0:1.0:0.0:0.0	.	511	Q8IXH7	NELFD_HUMAN	L	511	.	ENSP00000342300:P511L	P	+	2	0	TH1L	57002138	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.580000	0.82523	2.472000	0.83506	0.557000	0.71058	CCT		0.483	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		12	51	0	0	0	0	12	51				
PRAME	23532	broad.mit.edu	37	22	22899234	22899234	+	Missense_Mutation	SNP	A	A	G	rs1129172	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:22899234A>G	ENST00000398741.1	-	3	325	c.19T>C	c.(19-21)Tgg>Cgg	p.W7R	PRAME_ENST00000424204.2_5'Flank|PRAME_ENST00000485532.1_5'Flank|LL22NC03-63E9.3_ENST00000407120.1_5'Flank|PRAME_ENST00000398743.2_Missense_Mutation_p.W7R|PRAME_ENST00000402697.1_Missense_Mutation_p.W7R|PRAME_ENST00000539862.1_5'Flank|PRAME_ENST00000543184.1_Missense_Mutation_p.W7R|PRAME_ENST00000406503.1_Missense_Mutation_p.W7R|PRAME_ENST00000405655.3_Missense_Mutation_p.W7R	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	7			W -> R (in dbSNP:rs2266988). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.W7R(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTTCTTACCCACAAACGCCTT	0.562													G|||	3537	0.70627	0.7564	0.6931	5008	,	,		14575	0.752		0.5944	False		,,,				2504	0.7157				Melanoma(73;1707 1838 15168 27201)	uc002zwf.2		NA																	2	Substitution - Missense(2)	p.W7R(1)	prostate(1)|central_nervous_system(1)	central_nervous_system(2)	2						c.(19-21)TGG>CGG		preferentially expressed antigen in melanoma		G	ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP	3252,1154	408.6+/-334.7	1206,840,157	186.0	164.0	171.0		19,19,19,19,19	2.8	0.4	22	dbSNP_100	171	4922,3678	523.7+/-380.4	1402,2118,780	yes	missense,missense,missense,missense,missense	PRAME	NM_006115.3,NM_206953.1,NM_206954.1,NM_206955.1,NM_206956.1	101,101,101,101,101	2608,2958,937	GG,GA,AA		42.7674,26.1916,37.1521	benign,benign,benign,benign,benign	7/510,7/510,7/510,7/510,7/510	22899234	8174,4832	2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22899234A>G	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.19T>C	22.37:g.22899234A>G	ENSP00000381726:p.Trp7Arg					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_5'Flank|PRAME_uc010gtr.2_Missense_Mutation_p.W7R|PRAME_uc002zwg.2_Missense_Mutation_p.W7R|PRAME_uc002zwh.2_Missense_Mutation_p.W7R|PRAME_uc002zwi.2_Missense_Mutation_p.W7R|PRAME_uc002zwj.2_Missense_Mutation_p.W7R|PRAME_uc002zwk.2_Missense_Mutation_p.W7R|LOC648691_uc011ais.1_5'Flank	p.W7R	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	2	175	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	7					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.19T>C	CCDS13801.1	1490	0.6822344322344323	378	0.7682926829268293	235	0.649171270718232	422	0.7377622377622378	455	0.600263852242744	g	0.393	-0.922440	0.02396	0.738084	0.572326	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000402697;ENST00000439106;ENST00000420709;ENST00000406503;ENST00000403441	T;T;T;T;T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87	2.78	2.78	0.32641	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.33482	P	0.41245699999999996	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	8	0.02654	T	1	.	5.8996	0.18960	0.1457:0.0:0.8543:0.0	rs2266988;rs17497986;rs57013465	7	P78395	PRAME_HUMAN	R	7	ENSP00000381728:W7R;ENSP00000445675:W7R;ENSP00000381726:W7R;ENSP00000384343:W7R;ENSP00000385198:W7R;ENSP00000407320:W7R;ENSP00000412318:W7R;ENSP00000384058:W7R;ENSP00000385091:W7R	ENSP00000381726:W7R	W	-	1	0	PRAME	21229234	0.547000	0.26465	0.392000	0.26245	0.002000	0.02628	0.671000	0.25172	0.765000	0.33221	-0.213000	0.12676	TGG		0.562	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		8	148	0	0	0	0	8	148				
GRAMD4	23151	broad.mit.edu	37	22	47059754	47059754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr22:47059754C>T	ENST00000406902.1	+	7	832	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R207W			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	207					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAATATGAGACGGCTCAGTGA	0.617																																						uc003bhx.2		NA																	0				ovary(1)	1						c.(619-621)CGG>TGG		death-inducing-protein							67.0	62.0	63.0					22																	47059754		2202	4300	6502	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47059754C>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.619C>T	22.37:g.47059754C>T	ENSP00000385689:p.Arg207Trp					GRAMD4_uc010had.2_Missense_Mutation_p.R146W	p.R207W	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	6	658	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	207					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.619C>T	CCDS33672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.12|17.12	3.308784|3.308784	0.60305|0.60305	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.47869|.	0.83;0.83|.	4.36|4.36	-3.88|-3.88	0.04205|0.04205	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.46157|0.46157	1.445|1.445	0.21355|0.21355	N|N	0.999718|0.999718	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.70935|.	0.96;0.971|.	T|T	0.46034|0.46034	-0.9220|-0.9220	10|5	0.87932|.	D|.	0|.	-5.0253|-5.0253	9.7887|9.7887	0.40692|0.40692	0.5998:0.2931:0.1071:0.0|0.5998:0.2931:0.1071:0.0	.|.	29;207|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	W|M	207|29	ENSP00000385689:R207W;ENSP00000354313:R207W|.	ENSP00000354313:R207W|.	R|T	+|+	1|2	2|0	GRAMD4|GRAMD4	45438418|45438418	0.512000|0.512000	0.26186|0.26186	0.001000|0.001000	0.08648|0.08648	0.060000|0.060000	0.15804|0.15804	0.450000|0.450000	0.21762|0.21762	-0.292000|-0.292000	0.08999|0.08999	0.450000|0.450000	0.29827|0.29827	CGG|ACG		0.617	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		9	34	0	0	0	0	9	34				
BRPF1	7862	broad.mit.edu	37	3	9785382	9785382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:9785382G>A	ENST00000457855.1	+	7	2425	c.2414G>A	c.(2413-2415)cGc>cAc	p.R805H	BRPF1_ENST00000433861.2_Missense_Mutation_p.R805H|BRPF1_ENST00000302054.3_Missense_Mutation_p.R805H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R804H|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000383829.2_Missense_Mutation_p.R811H			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	805	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGTGTGGGCCGCTCACGGCGT	0.592																																						uc003bse.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2413-2415)CGC>CAC		bromodomain and PHD finger-containing protein 1							36.0	35.0	35.0					3																	9785382		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9785382G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2414G>A	3.37:g.9785382G>A	ENSP00000410210:p.Arg805His					BRPF1_uc003bsf.2_Missense_Mutation_p.R811H|BRPF1_uc003bsg.2_Missense_Mutation_p.R804H|BRPF1_uc011ati.1_Missense_Mutation_p.R805H	p.R805H	NM_004634	NP_004625	P55201	BRPF1_HUMAN			8	2813	+	Medulloblastoma(99;0.227)		805			Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2414G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999098	0.74818	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.21543	2.14;2.0;3.49;2.11;2.11	6.07	6.07	0.98685	.	0.056989	0.85682	D	0.000000	T	0.50752	0.1634	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.986;0.986;0.957	T	0.44375	-0.9332	10	0.66056	D	0.02	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	805;804;811;805	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	H	805;804;811;805;805	ENSP00000402485:R805H;ENSP00000398863:R804H;ENSP00000373340:R811H;ENSP00000306297:R805H;ENSP00000410210:R805H	ENSP00000306297:R805H	R	+	2	0	BRPF1	9760382	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.255000	0.72466	2.884000	0.98904	0.655000	0.94253	CGC		0.592	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		13	8	0	0	0	0	13	8				
ABTB1	80325	broad.mit.edu	37	3	127394943	127394943	+	Missense_Mutation	SNP	C	C	G	rs75647091		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:127394943C>G	ENST00000232744.8	+	4	392	c.306C>G	c.(304-306)gaC>gaG	p.D102E	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						ATTACTATGACGACTTCTTGC	0.642																																						uc003ejt.2		NA																	0					0						c.(304-306)GAC>GAG		ankyrin repeat and BTB (POZ) domain containing 1							38.0	38.0	38.0					3																	127394943		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127394943C>G	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.306C>G	3.37:g.127394943C>G	ENSP00000232744:p.Asp102Glu					ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.D77E|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	p.D102E	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			4	394	+			102						Missense_Mutation	SNP	ENST00000232744.8	37	c.306C>G	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	0.207	-1.039513	0.02013	.	.	ENSG00000114626	ENST00000232744	T	0.57595	0.39	4.71	-8.28	0.01013	BTB/POZ fold (1);Ankyrin repeat-containing domain (1);	0.353337	0.31061	N	0.008336	T	0.34716	0.0907	L	0.45698	1.435	0.39145	D	0.96211	B;B	0.17268	0.003;0.021	B;B	0.16289	0.004;0.015	T	0.52056	-0.8626	10	0.02654	T	1	-20.3475	17.0406	0.86488	0.0:0.3269:0.0:0.6731	.	102;77	Q969K4;Q969K4-3	ABTB1_HUMAN;.	E	102	ENSP00000232744:D102E	ENSP00000232744:D102E	D	+	3	2	ABTB1	128877633	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.040000	0.01416	-2.149000	0.00797	-1.352000	0.01234	GAC		0.642	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		31	18	0	0	0	0	31	18				
SENP2	59343	broad.mit.edu	37	3	185347618	185347618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:185347618C>T	ENST00000296257.5	+	17	1996	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	SENP2_ENST00000545472.1_Nonsense_Mutation_p.Q576*|SENP2_ENST00000427465.2_Nonsense_Mutation_p.Q410*	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	586					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AATCCTTCATCAGCAGTTGCT	0.468																																						uc003fpn.2		NA																	0					0						c.(1756-1758)CAG>TAG		SUMO1/sentrin/SMT3 specific protease 2							193.0	170.0	178.0					3																	185347618		2203	4300	6503	SO:0001587	stop_gained	59343				mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity	g.chr3:185347618C>T	AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1756C>T	3.37:g.185347618C>T	ENSP00000296257:p.Gln586*					SENP2_uc011brv.1_Nonsense_Mutation_p.Q576*|SENP2_uc011brw.1_Nonsense_Mutation_p.Q399*	p.Q586*	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		17	1927	+	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		586					B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Nonsense_Mutation	SNP	ENST00000296257.5	37	c.1756C>T	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	C	36	5.903351	0.97087	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	.	.	.	5.88	5.88	0.94601	.	0.134125	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-9.7424	19.0095	0.92867	0.0:1.0:0.0:0.0	.	.	.	.	X	576;586;457;410	.	ENSP00000296257:Q586X	Q	+	1	0	SENP2	186830312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.853000	0.55941	2.779000	0.95612	0.650000	0.86243	CAG		0.468	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627		9	54	0	0	0	0	9	54				
FAT4	79633	broad.mit.edu	37	4	126411278	126411278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr4:126411278C>T	ENST00000394329.3	+	17	13314	c.13301C>T	c.(13300-13302)cCg>cTg	p.P4434L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2675L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4434	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						GCCTCCCACCCGTGCCAGAAT	0.607																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13300-13302)CCG>CTG		FAT tumor suppressor homolog 4 precursor							82.0	76.0	78.0					4																	126411278		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411278C>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.13301C>T	4.37:g.126411278C>T	ENSP00000377862:p.Pro4434Leu					FAT4_uc011cgp.1_Missense_Mutation_p.P2675L|FAT4_uc003ifi.1_Missense_Mutation_p.P1911L	p.P4434L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13301	+			4434			EGF-like 6.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13301C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917146	0.73098	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.93076	-3.16;-3.16	5.17	5.17	0.71159	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.34338	U	0.004053	D	0.97219	0.9091	M	0.88105	2.93	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	0.98034	1.0378	10	0.87932	D	0	.	17.6678	0.88208	0.0:1.0:0.0:0.0	.	2675;4434;4433	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	4434;2675	ENSP00000377862:P4434L;ENSP00000335169:P2675L	ENSP00000335169:P2675L	P	+	2	0	FAT4	126630728	1.000000	0.71417	0.973000	0.42090	0.675000	0.39556	7.633000	0.83260	2.395000	0.81488	0.561000	0.74099	CCG		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		45	49	0	0	0	0	45	49				
CDH9	1007	broad.mit.edu	37	5	26885757	26885757	+	Silent	SNP	G	G	A	rs541154525		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:26885757G>A	ENST00000231021.4	-	11	2020	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	616					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAATCGCAACGAGAGCTCCCG	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14201	0.0		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1846-1848)CTC>CTT		cadherin 9, type 2 preproprotein							78.0	66.0	70.0					5																	26885757		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885757G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1848C>T	5.37:g.26885757G>A						CDH9_uc011cnv.1_Silent_p.L209L	p.L616L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2017	-			616			Helical; (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1848C>T	CCDS3893.1																																																																																				0.512	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		8	13	0	0	0	0	8	13				
NNT	23530	broad.mit.edu	37	5	43616103	43616103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:43616103C>G	ENST00000264663.5	+	4	756	c.535C>G	c.(535-537)Cag>Gag	p.Q179E	NNT_ENST00000512996.2_Missense_Mutation_p.Q48E|NNT_ENST00000344920.4_Missense_Mutation_p.Q179E	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	179					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGCAATGGACCAGGTTCCAAG	0.423																																						uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(535-537)CAG>GAG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						102.0	105.0	104.0					5																	43616103		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616103C>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.535C>G	5.37:g.43616103C>G	ENSP00000264663:p.Gln179Glu					NNT_uc003jof.2_Missense_Mutation_p.Q179E	p.Q179E	NM_012343	NP_036475	Q13423	NNTM_HUMAN			4	790	+	Lung NSC(6;2.58e-06)		179			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.535C>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991326	0.74703	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996;ENST00000515208	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.69	5.69	0.88448	Alanine dehydrogenase/PNT, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	L	0.38838	1.175	0.80722	D	1	P	0.38729	0.644	B	0.40256	0.324	T	0.71686	-0.4518	10	0.49607	T	0.09	-9.9751	19.817	0.96573	0.0:1.0:0.0:0.0	.	179	Q13423	NNTM_HUMAN	E	179;179;179;179;48;48	ENSP00000427670:Q179E;ENSP00000421886:Q179E;ENSP00000264663:Q179E;ENSP00000343873:Q179E;ENSP00000426343:Q48E;ENSP00000425542:Q48E	ENSP00000264663:Q179E	Q	+	1	0	NNT	43651860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.603000	0.82811	2.678000	0.91216	0.655000	0.94253	CAG		0.423	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		8	73	0	0	0	0	8	73				
PCDHA5	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140202723G>A	ENST00000529859.1	+	1	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A455T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A455T	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1363-1365)GCG>ACG		protocadherin alpha 5 isoform 1 precursor							72.0	74.0	73.0					5																	140202723		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202723G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1363G>A	5.37:g.140202723G>A	ENSP00000436557:p.Ala455Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A455T|PCDHA5_uc003lhj.1_Missense_Mutation_p.A455T	p.A455T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1363	+			455			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1363G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674192	0.14841	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59906	0.23;0.23;0.23	3.77	1.92	0.25849	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.26738	0.0654	N	0.05199	-0.095	0.09310	N	1	B;P;B	0.40266	0.152;0.71;0.364	B;B;B	0.26517	0.07;0.052;0.036	T	0.07404	-1.0774	9	0.44086	T	0.13	.	6.0873	0.19975	0.1694:0.2873:0.5432:0.0	.	455;455;455	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	455	ENSP00000433416:A455T;ENSP00000436557:A455T;ENSP00000367366:A455T	ENSP00000367366:A455T	A	+	1	0	PCDHA5	140182907	0.000000	0.05858	0.844000	0.33320	0.371000	0.29859	-1.613000	0.02059	0.203000	0.20529	0.558000	0.71614	GCG		0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		12	40	0	0	0	0	12	40				
PCDHA13	56136	broad.mit.edu	37	5	140263856	140263856	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140263856C>T	ENST00000289272.2	+	1	2003	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S668L|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	668	Cadherin 6. {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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGTTGTCGCTGGTGGAG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2002-2004)TCG>TTG		protocadherin alpha 13 isoform 1 precursor							54.0	53.0	53.0					5																	140263856		2203	4299	6502	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263856C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2003C>T	5.37:g.140263856C>T	ENSP00000289272:p.Ser668Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.S668L|PCDHA13_uc003lid.2_Missense_Mutation_p.S668L	p.S668L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2003	+			668			Cadherin 6.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2003C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	6.879	0.531521	0.13127	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.84	4.08	4.08	0.47627	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.50565	0.1623	M	0.70842	2.15	0.23287	N	0.997973	B;B;P	0.39737	0.451;0.398;0.685	B;B;B	0.42163	0.072;0.378;0.157	T	0.47947	-0.9077	9	0.51188	T	0.08	.	10.4005	0.44227	0.0:0.9056:0.0:0.0944	.	668;668;668	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	668	ENSP00000386821:S668L;ENSP00000289272:S668L	ENSP00000289272:S668L	S	+	2	0	PCDHA13	140244040	0.000000	0.05858	0.999000	0.59377	0.032000	0.12392	0.146000	0.16180	2.084000	0.62774	0.655000	0.94253	TCG		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		24	22	0	0	0	0	24	22				
PCDHGB1	56104	broad.mit.edu	37	5	140730444	140730444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:140730444G>A	ENST00000523390.1	+	1	617	c.617G>A	c.(616-618)cGc>cAc	p.R206H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	206	Cadherin 2. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCTCATCGCTTAATCCTG	0.493																																						uc003ljo.1		NA																	0					0						c.(616-618)CGC>CAC		protocadherin gamma subfamily B, 1 isoform 1							69.0	68.0	68.0					5																	140730444		1884	4117	6001	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730444G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.617G>A	5.37:g.140730444G>A	ENSP00000429273:p.Arg206His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R206H	p.R206H	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	617	+			206			Extracellular (Potential).|Cadherin 2.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.617G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.252	-1.005919	0.02112	.	.	ENSG00000254221	ENST00000523390	T	0.51817	0.69	5.18	-5.94	0.02247	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14700	0.0355	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.43653	-0.9378	9	0.02654	T	1	.	14.2569	0.66058	0.8923:0.0:0.1077:0.0	.	206;206	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	H	206	ENSP00000429273:R206H	ENSP00000429273:R206H	R	+	2	0	PCDHGB1	140710628	0.000000	0.05858	0.030000	0.17652	0.714000	0.41099	-1.027000	0.03592	-1.248000	0.02503	0.563000	0.77884	CGC		0.493	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		20	24	0	0	0	0	20	24				
GABRA1	2554	broad.mit.edu	37	5	161302579	161302579	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:161302579G>A	ENST00000428797.2	+	7	845	c.490G>A	c.(490-492)Gct>Act	p.A164T	GABRA1_ENST00000437025.2_Missense_Mutation_p.A164T|GABRA1_ENST00000393943.4_Missense_Mutation_p.A164T|GABRA1_ENST00000444819.1_Missense_Mutation_p.A164T|GABRA1_ENST00000420560.1_Missense_Mutation_p.A164T|GABRA1_ENST00000023897.6_Missense_Mutation_p.A164T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	164					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACAGTGAGAGCTGAATGTCC	0.373																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(490-492)GCT>ACT		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						178.0	173.0	175.0					5																	161302579		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161302579G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.490G>A	5.37:g.161302579G>A	ENSP00000393097:p.Ala164Thr					GABRA1_uc010jix.2_Missense_Mutation_p.A164T|GABRA1_uc010jiy.2_Missense_Mutation_p.A164T|GABRA1_uc003lyx.3_Missense_Mutation_p.A164T|GABRA1_uc010jiz.2_Missense_Mutation_p.A164T|GABRA1_uc010jja.2_Missense_Mutation_p.A164T|GABRA1_uc010jjb.2_Missense_Mutation_p.A164T	p.A164T	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	7	958	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	164			Extracellular (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.490G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349686	0.95830	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.117860	0.56097	D	0.000025	D	0.92061	0.7484	M	0.92555	3.32	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.93539	0.6876	10	0.66056	D	0.02	.	19.094	0.93242	0.0:0.0:1.0:0.0	.	164	P14867	GBRA1_HUMAN	T	164	ENSP00000023897:A164T;ENSP00000393097:A164T;ENSP00000377517:A164T;ENSP00000415441:A164T;ENSP00000408041:A164T;ENSP00000414232:A164T	ENSP00000023897:A164T	A	+	1	0	GABRA1	161235157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.746000	0.98859	2.595000	0.87683	0.650000	0.86243	GCT		0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		20	50	0	0	0	0	20	50				
FGFR4	2264	broad.mit.edu	37	5	176523713	176523713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176523713G>A	ENST00000292408.4	+	16	2369	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	FGFR4_ENST00000502906.1_Missense_Mutation_p.M708I|FGFR4_ENST00000292410.3_Missense_Mutation_p.M668I|FGFR4_ENST00000393648.2_Missense_Mutation_p.M640I|FGFR4_ENST00000393637.1_Missense_Mutation_p.M668I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GACATCGGATGGACCGACCCC	0.657										TSP Lung(9;0.080)																												uc003mfl.2		NA																	0				lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16						c.(2122-2124)ATG>ATA		fibroblast growth factor receptor 4 isoform 1	Palifermin(DB00039)						53.0	53.0	53.0					5																	176523713		2203	4300	6503	SO:0001583	missense	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176523713G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2124G>A	5.37:g.176523713G>A	ENSP00000292408:p.Met708Ile	TSP Lung(9;0.080)				FGFR4_uc003mfm.2_Missense_Mutation_p.M708I|FGFR4_uc011dfu.1_Missense_Mutation_p.M640I|FGFR4_uc003mfo.2_Missense_Mutation_p.M668I	p.M708I	NM_002011	NP_002002	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2291	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	708			Protein kinase.|Cytoplasmic (Potential).		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.2124G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.004460	0.74932	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.43	4.43	0.53597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	L	0.35249	1.045	0.80722	D	1	D;D;D	0.64830	0.985;0.982;0.994	D;D;D	0.76575	0.983;0.971;0.988	D	0.88820	0.3298	10	0.87932	D	0	.	16.6665	0.85254	0.0:0.0:1.0:0.0	.	640;668;708	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	I	708;640;708;668;668;936	ENSP00000292408:M708I;ENSP00000377259:M640I;ENSP00000424960:M708I;ENSP00000292410:M668I;ENSP00000377254:M668I	ENSP00000292408:M708I	M	+	3	0	FGFR4	176456319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.866000	0.99616	2.010000	0.58986	0.556000	0.70494	ATG		0.657	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			4	20	0	0	0	0	4	20				
NSD1	64324	broad.mit.edu	37	5	176719035	176719035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:176719035C>G	ENST00000439151.2	+	22	6384	c.6339C>G	c.(6337-6339)atC>atG	p.I2113M	NSD1_ENST00000347982.4_Missense_Mutation_p.I1844M|NSD1_ENST00000354179.4_Missense_Mutation_p.I1844M|NSD1_ENST00000361032.4_Missense_Mutation_p.I2010M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2113					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGGGTGAAATCACAAAGGAGC	0.483			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(6337-6339)ATC>ATG		nuclear receptor binding SET domain protein 1							86.0	71.0	76.0					5																	176719035		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176719035C>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6339C>G	5.37:g.176719035C>G	ENSP00000395929:p.Ile2113Met	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.I1844M|NSD1_uc011dfx.1_Missense_Mutation_p.I1761M	p.I2113M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	22	6477	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2113					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6339C>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392610	0.62066	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.44	3.39	0.38822	Zinc finger, FYVE/PHD-type (1);	0.453513	0.21151	N	0.079333	T	0.77068	0.4076	L	0.27053	0.805	0.27865	N	0.940263	P;B	0.35174	0.488;0.134	B;B	0.42916	0.402;0.163	T	0.68183	-0.5476	10	0.45353	T	0.12	.	4.9928	0.14224	0.1265:0.5695:0.2151:0.0888	.	1844;2113	Q96L73-2;Q96L73	.;NSD1_HUMAN	M	1844;2113;1844;2010	ENSP00000346111:I1844M;ENSP00000395929:I2113M;ENSP00000343209:I1844M;ENSP00000354310:I2010M	ENSP00000343209:I1844M	I	+	3	3	NSD1	176651641	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.582000	0.36568	2.571000	0.86741	0.650000	0.86243	ATC		0.483	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		6	8	0	0	0	0	6	8				
BTNL8	79908	broad.mit.edu	37	5	180338567	180338567	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr5:180338567G>A	ENST00000340184.4	+	3	832	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	BTNL8_ENST00000400707.3_Missense_Mutation_p.R84Q|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000511704.1_Missense_Mutation_p.R93Q|BTNL8_ENST00000508408.1_Missense_Mutation_p.R209Q|BTNL8_ENST00000533815.2_Missense_Mutation_p.R25Q|BTNL8_ENST00000505126.1_Missense_Mutation_p.R2Q|BTNL8_ENST00000231229.4_Missense_Mutation_p.R209Q	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCATGCGGCATGCTCAT	0.547																																						uc003mmp.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(625-627)CGG>CAG		butyrophilin-like 8 isoform 2 precursor							68.0	67.0	67.0					5																	180338567		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338567G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.626G>A	5.37:g.180338567G>A	ENSP00000342197:p.Arg209Gln					BTNL8_uc003mmq.2_Missense_Mutation_p.R209Q|BTNL8_uc011dhg.1_Missense_Mutation_p.R84Q|BTNL8_uc010jll.2_Missense_Mutation_p.R209Q|BTNL8_uc010jlm.2_Missense_Mutation_p.R93Q|BTNL8_uc011dhh.1_Missense_Mutation_p.R25Q	p.R209Q	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	860	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	209			Ig-like V-type 2.|Extracellular (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.626G>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	A	0.187	-1.056820	0.01965	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.61859	3.34;3.34;3.34;3.34;3.34;0.07;0.4	3.59	0.787	0.18596	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22551	0.0544	N	0.03000	-0.44	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.0;0.002;0.003;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0	T	0.26608	-1.0098	9	0.02654	T	1	.	3.0846	0.06273	0.5791:0.0:0.2382:0.1827	.	84;93;209;209;209	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	Q	209;209;84;209;93;2;25	ENSP00000231229:R209Q;ENSP00000342197:R209Q;ENSP00000383543:R84Q;ENSP00000424585:R209Q;ENSP00000425207:R93Q;ENSP00000427441:R2Q;ENSP00000435098:R25Q	ENSP00000231229:R209Q	R	+	2	0	BTNL8	180271173	0.005000	0.15991	0.008000	0.14137	0.030000	0.12068	0.532000	0.23067	0.018000	0.15052	-1.140000	0.01884	CGG		0.547	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		23	27	0	0	0	0	23	27				
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:100382357G>T	ENST00000281806.2	-	5	938	c.624C>A	c.(622-624)ttC>ttA	p.F208L	MCHR2_ENST00000369212.2_Missense_Mutation_p.F208L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343																																						uc003pqh.1		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(622-624)TTC>TTA		melanin-concentrating hormone receptor 2							86.0	86.0	86.0					6																	100382357		2203	4297	6500	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382357G>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.624C>A	6.37:g.100382357G>T	ENSP00000281806:p.Phe208Leu					MCHR2_uc003pqi.1_Missense_Mutation_p.F208L	p.F208L	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	5	939	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	208			Helical; Name=5; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.624C>A	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	G	2.671	-0.277484	0.05679	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.31510	1.49;1.49;1.49	5.11	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.086238	0.47455	D	0.000222	T	0.02083	0.0065	N	0.01817	-0.705	0.33466	D	0.585596	B	0.06786	0.001	B	0.09377	0.004	T	0.43718	-0.9374	10	0.02654	T	1	.	3.9146	0.09217	0.3436:0.177:0.4795:0.0	.	208	Q969V1	MCHR2_HUMAN	L	208	ENSP00000403490:F208L;ENSP00000281806:F208L;ENSP00000358214:F208L	ENSP00000281806:F208L	F	-	3	2	MCHR2	100489078	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.415000	0.21181	0.280000	0.22209	0.655000	0.94253	TTC		0.343	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		43	26	1	0	3.55e-21	4e-21	43	26				
MYCT1	80177	broad.mit.edu	37	6	153019042	153019042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr6:153019042G>A	ENST00000367245.5	+	1	13	c.5G>A	c.(4-6)cGa>cAa	p.R2Q	MYCT1_ENST00000529453.1_Missense_Mutation_p.R2Q	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	2						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CCTTTTATGCGAACACAAGTA	0.323																																						uc003qpd.3		NA																	0				ovary(1)	1						c.(4-6)CGA>CAA		myc target 1							71.0	73.0	72.0					6																	153019042		2203	4297	6500	SO:0001583	missense	80177					nucleus		g.chr6:153019042G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.5G>A	6.37:g.153019042G>A	ENSP00000356214:p.Arg2Gln					MYCT1_uc010kjc.1_Missense_Mutation_p.R2Q|MYCT1_uc003qpc.3_Missense_Mutation_p.R2Q	p.R2Q	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	13	+		Ovarian(120;0.0654)	2					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.5G>A	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210491	0.09757	.	.	ENSG00000120279	ENST00000367245;ENST00000529453	T	0.35605	1.3	5.86	3.48	0.39840	.	0.873277	0.09538	N	0.788655	T	0.03695	0.0105	N	0.02539	-0.55	0.22240	N	0.999269	B	0.06786	0.001	B	0.01281	0.0	T	0.46148	-0.9212	10	0.10636	T	0.68	-2.4592	6.1209	0.20151	0.6716:0.1275:0.2009:0.0	.	2	Q8N699	MYCT1_HUMAN	Q	2	ENSP00000356214:R2Q	ENSP00000356214:R2Q	R	+	2	0	MYCT1	153060735	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.091000	0.41691	0.143000	0.18926	-2.254000	0.00282	CGA		0.323	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		28	11	0	0	0	0	28	11				
RBAK	57786	broad.mit.edu	37	7	5097370	5097370	+	Silent	SNP	G	G	A	rs576821880		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:5097370G>A	ENST00000353796.3	+	5	522	c.198G>A	c.(196-198)ccG>ccA	p.P66P	RBAK-RBAKDN_ENST00000396904.2_Silent_p.P66P|RBAK-RBAKDN_ENST00000407184.1_Silent_p.P66P|RBAK_ENST00000396912.1_Silent_p.P66P	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAGGAGCCGTGGATAATGG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19558	0.001		0.0	False		,,,				2504	0.0					uc010kss.1		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(196-198)CCG>CCA		RB-associated KRAB repressor							161.0	139.0	147.0					7																	5097370		2203	4300	6503	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5097370G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.198G>A	7.37:g.5097370G>A						LOC389458_uc003snr.2_Silent_p.P66P|RBAK_uc003sns.1_Silent_p.P66P	p.P66P	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	522	+		Ovarian(82;0.0175)	66			KRAB.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.198G>A	CCDS5337.1																																																																																				0.453	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		19	65	0	0	0	0	19	65				
CHN2	1124	broad.mit.edu	37	7	29552210	29552210	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:29552210G>A	ENST00000222792.6	+	13	1796	c.1266G>A	c.(1264-1266)atG>atA	p.M422I	CHN2_ENST00000495789.2_Missense_Mutation_p.M435I|CHN2_ENST00000435288.2_Missense_Mutation_p.M146I|CHN2_ENST00000539389.1_Missense_Mutation_p.M278I|CHN2_ENST00000546235.1_Missense_Mutation_p.M407I|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000439711.2_Missense_Mutation_p.M240I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.M497I|CHN2_ENST00000424025.2_Missense_Mutation_p.M241I|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000421775.2_Missense_Mutation_p.M228I|CHN2_ENST00000409041.4_Missense_Mutation_p.M286I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	422	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ACAATTTCATGAATGCAGAAA	0.423																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NA																	0				ovary(2)	2						c.(1264-1266)ATG>ATA		beta chimerin isoform 2							88.0	90.0	89.0					7																	29552210		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552210G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1266G>A	7.37:g.29552210G>A	ENSP00000222792:p.Met422Ile					CHN2_uc011jzs.1_Missense_Mutation_p.M497I|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.M387I|CHN2_uc011jzt.1_Missense_Mutation_p.M435I|CHN2_uc010kvd.2_Missense_Mutation_p.M278I|CHN2_uc011jzu.1_Missense_Mutation_p.M407I|CHN2_uc010kvg.2_Missense_Mutation_p.M240I|CHN2_uc010kvh.2_Missense_Mutation_p.M182I|CHN2_uc010kvi.2_Missense_Mutation_p.M214I|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.M286I|CHN2_uc010kvf.2_Missense_Mutation_p.M228I|CHN2_uc010kvj.2_Missense_Mutation_p.M195I|CHN2_uc010kvk.2_Missense_Mutation_p.M97I|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.M241I|CHN2_uc011jzv.1_Missense_Mutation_p.M215I	p.M422I	NM_004067	NP_004058	P52757	CHIO_HUMAN			13	1703	+			422			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1266G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411240	0.83340	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.41	5.41	0.78517	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.81370	0.4808	H	0.99582	4.64	0.80722	D	1	D;D;D;D;D;D;P;D;D;D;D;P;D;P	0.89917	1.0;1.0;0.975;0.969;0.997;0.986;0.918;0.975;1.0;0.977;1.0;0.95;0.993;0.95	D;D;P;P;D;D;D;D;D;P;D;P;D;P	0.83275	0.99;0.993;0.682;0.554;0.96;0.932;0.935;0.966;0.996;0.902;0.996;0.535;0.96;0.535	D	0.89568	0.3811	10	0.87932	D	0	.	19.1587	0.93522	0.0:0.0:1.0:0.0	.	215;407;435;497;241;195;214;182;240;228;278;422;286;422	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	I	497;422;146;435;278;407;286;241;240;228	ENSP00000444063:M497I;ENSP00000222792:M422I;ENSP00000400282:M146I;ENSP00000438587:M435I;ENSP00000440526:M278I;ENSP00000442812:M407I;ENSP00000386849:M286I;ENSP00000406337:M241I;ENSP00000387425:M240I;ENSP00000394284:M228I	ENSP00000222792:M422I	M	+	3	0	CHN2	29518735	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.694000	0.98686	2.699000	0.92147	0.650000	0.86243	ATG		0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		18	55	0	0	0	0	18	55				
FGL2	10875	broad.mit.edu	37	7	76826174	76826174	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:76826174C>T	ENST00000248598.5	-	2	774	c.742G>A	c.(742-744)Ggg>Agg	p.G248R	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGCCTCCCCCCATGGTCTCC	0.493																																						uc003ugb.2		NA																	0				skin(2)	2						c.(742-744)GGG>AGG		fibrinogen-like 2 precursor							108.0	103.0	105.0					7																	76826174		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76826174C>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.742G>A	7.37:g.76826174C>T	ENSP00000248598:p.Gly248Arg					CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	p.G248R	NM_006682	NP_006673	Q14314	FGL2_HUMAN			2	782	-			248			Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000248598.5	37	c.742G>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800619	0.90538	.	.	ENSG00000127951	ENST00000248598	D	0.84873	-1.91	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.091642	0.85682	D	0.000000	D	0.94739	0.8302	M	0.93507	3.425	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	D	0.95233	0.8344	10	0.72032	D	0.01	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	248	Q14314	FGL2_HUMAN	R	248	ENSP00000248598:G248R	ENSP00000248598:G248R	G	-	1	0	FGL2	76664110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.785000	0.95823	0.655000	0.94253	GGG		0.493	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		39	66	0	0	0	0	39	66				
HYAL4	23553	broad.mit.edu	37	7	123516945	123516945	+	Silent	SNP	G	G	A	rs138391454	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:123516945G>A	ENST00000223026.4	+	5	1820	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	HYAL4_ENST00000476325.1_Silent_p.A394A	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTGGAACGCGCCCAGTTACC	0.507													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18291	0.0		0.0	False		,,,				2504	0.0					uc003vlc.2		NA																	0				skin(1)	1						c.(1180-1182)GCG>GCA		hyaluronoglucosaminidase 4		G		5,4401	9.9+/-24.2	0,5,2198	138.0	127.0	130.0		1182	-11.7	0.0	7	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous	HYAL4	NM_012269.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		394/482	123516945	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516945G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1182G>A	7.37:g.123516945G>A						HYAL4_uc011knz.1_3'UTR	p.A394A	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	1820	+			394			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.1182G>A	CCDS5789.1																																																																																				0.507	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		27	28	0	0	0	0	27	28				
OR6B1	135946	broad.mit.edu	37	7	143701141	143701141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr7:143701141C>T	ENST00000408922.2	+	1	120	c.52C>T	c.(52-54)Cct>Tct	p.P18S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGTGGGATTCCCTGGGAGCTT	0.483																																						uc003wdt.1		NA																	0				ovary(1)	1						c.(52-54)CCT>TCT		olfactory receptor, family 6, subfamily B,							106.0	98.0	101.0					7																	143701141		1939	4165	6104	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701141C>T		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.52C>T	7.37:g.143701141C>T	ENSP00000386151:p.Pro18Ser						p.P18S	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	52	+	Melanoma(164;0.0783)		18			Extracellular (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.52C>T	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964449	0.18583	.	.	ENSG00000221813	ENST00000408922	T	0.00421	7.46	5.37	5.37	0.77165	.	0.000000	0.36740	U	0.002426	T	0.00178	0.0005	N	0.03930	-0.32	0.41833	D	0.99008	B	0.25169	0.119	B	0.26864	0.074	T	0.70447	-0.4869	10	0.10902	T	0.67	.	9.9224	0.41472	0.0:0.9105:0.0:0.0895	.	18	O95007	OR6B1_HUMAN	S	18	ENSP00000386151:P18S	ENSP00000386151:P18S	P	+	1	0	OR6B1	143332074	0.000000	0.05858	0.816000	0.32577	0.237000	0.25408	0.261000	0.18442	2.782000	0.95742	0.557000	0.71058	CCT		0.483	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			14	25	0	0	0	0	14	25				
ESRP1	54845	broad.mit.edu	37	8	95683890	95683890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:95683890G>C	ENST00000433389.2	+	11	1633	c.1443G>C	c.(1441-1443)ttG>ttC	p.L481F	ESRP1_ENST00000454170.2_Missense_Mutation_p.L481F|ESRP1_ENST00000423620.2_Missense_Mutation_p.L481F|ESRP1_ENST00000358397.5_Missense_Mutation_p.L481F	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	481	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACATGGTTTTGAATCACCAGG	0.383																																						uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1441-1443)TTG>TTC		RNA binding motif protein 35A isoform 1							39.0	38.0	38.0					8																	95683890		1901	4138	6039	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683890G>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1443G>C	8.37:g.95683890G>C	ENSP00000405738:p.Leu481Phe					ESRP1_uc003ygr.3_Missense_Mutation_p.L481F|ESRP1_uc003ygs.3_Missense_Mutation_p.L481F|ESRP1_uc003ygt.3_Missense_Mutation_p.L481F|ESRP1_uc003ygu.3_Missense_Mutation_p.L481F|ESRP1_uc003ygv.2_Missense_Mutation_p.L321F|ESRP1_uc003ygw.2_Missense_Mutation_p.L321F	p.L481F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			11	1626	+			481			RRM 3.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1443G>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362448|3.362448	0.61403|0.61403	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.08807	.|3.05;3.05;3.05;3.05;3.05	4.98|4.98	2.69|2.69	0.31865|0.31865	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15435|0.15435	0.0372|0.0372	L|L	0.52364|0.52364	1.645|1.645	0.53688|0.53688	D|D	0.999975|0.999975	.|D;D;P;P;P;D	.|0.89917	.|1.0;1.0;0.679;0.91;0.819;0.999	.|D;D;B;P;P;D	.|0.81914	.|0.995;0.995;0.384;0.737;0.614;0.994	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.54805	.|T	.|0.06	-10.0652|-10.0652	0.7579|0.7579	0.01002|0.01002	0.17:0.2442:0.3368:0.249|0.17:0.2442:0.3368:0.249	.|.	.|481;481;481;481;481;481	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	Q|F	347|481;481;481;481;340	.|ENSP00000407349:L481F;ENSP00000405738:L481F;ENSP00000351168:L481F;ENSP00000402766:L481F;ENSP00000429125:L340F	.|ENSP00000351168:L481F	E|L	+|+	1|3	0|2	ESRP1|ESRP1	95753066|95753066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.283000|1.283000	0.33237|0.33237	1.160000|1.160000	0.42584|0.42584	0.563000|0.563000	0.77884|0.77884	GAA|TTG		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		5	23	0	0	0	0	5	23				
DSCC1	79075	broad.mit.edu	37	8	120859281	120859281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr8:120859281C>T	ENST00000313655.4	-	4	740	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	176					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTTCCTCACTTGCCTGA	0.308																																						uc003yov.2		NA																	0				pancreas(1)	1						c.(526-528)GAG>AAG		defective in sister chromatid cohesion 1							104.0	97.0	99.0					8																	120859281		2203	4299	6502	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120859281C>T		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.526G>A	8.37:g.120859281C>T	ENSP00000322180:p.Glu176Lys						p.E176K	NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	661	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		176					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.526G>A	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041462	0.75732	.	.	ENSG00000136982	ENST00000313655	T	0.48522	0.81	5.36	5.36	0.76844	.	0.218283	0.46758	D	0.000264	T	0.44477	0.1295	L	0.51914	1.62	0.53005	D	0.999963	B	0.33807	0.426	B	0.35770	0.21	T	0.29088	-1.0023	10	0.15066	T	0.55	-21.1601	17.2775	0.87120	0.0:1.0:0.0:0.0	.	176	Q9BVC3	DCC1_HUMAN	K	176	ENSP00000322180:E176K	ENSP00000322180:E176K	E	-	1	0	DSCC1	120928462	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.678000	0.54627	2.502000	0.84385	0.563000	0.77884	GAG		0.308	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		22	47	0	0	0	0	22	47				
FOCAD	54914	broad.mit.edu	37	9	20981650	20981650	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:20981650G>A	ENST00000380249.1	+	40	4967	c.4603G>A	c.(4603-4605)Ggg>Agg	p.G1535R	FOCAD_ENST00000605086.1_Missense_Mutation_p.G971R|FOCAD_ENST00000338382.6_Missense_Mutation_p.G1535R	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1535						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TGAAGCTACTGGGAAAATTTT	0.463																																						uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(4603-4605)GGG>AGG		hypothetical protein LOC54914							45.0	48.0	47.0					9																	20981650		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20981650G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4603G>A	9.37:g.20981650G>A	ENSP00000369599:p.Gly1535Arg					KIAA1797_uc003zoh.1_Missense_Mutation_p.G971R	p.G1535R	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	40	4966	+			1535					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4603G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	8.925	0.962005	0.18583	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.17854	2.25;2.25	5.96	5.07	0.68467	.	0.355051	0.31415	N	0.007698	T	0.10465	0.0256	N	0.12182	0.205	0.38189	D	0.939862	B	0.02656	0.0	B	0.09377	0.004	T	0.15838	-1.0423	10	0.16420	T	0.52	-14.3244	15.2213	0.73313	0.067:0.0:0.933:0.0	.	1535	Q5VW36	K1797_HUMAN	R	1535	ENSP00000369599:G1535R;ENSP00000344307:G1535R	ENSP00000344307:G1535R	G	+	1	0	KIAA1797	20971650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.856000	0.69518	1.541000	0.49316	0.655000	0.94253	GGG		0.463	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		18	31	0	0	0	0	18	31				
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CD972119	CDKN2A	D		c.(358-360)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.E120*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	570	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		15	30	1	0	3.46e-05	3.73e-05	15	30				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)TGG>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971028C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	542	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	32	0	0	0	0	10	32				
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	C			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:113170491G>C	ENST00000401783.2	-	38	7725	c.7389C>G	c.(7387-7389)ctC>ctG	p.L2463L	SVEP1_ENST00000297826.5_Silent_p.L389L|SVEP1_ENST00000374469.1_Silent_p.L2440L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478																																						uc010mtz.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(7)	7						c.(7387-7389)CTC>CTG		polydom							66.0	64.0	64.0					9																	113170491		1932	4143	6075	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170491G>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7389C>G	9.37:g.113170491G>C						SVEP1_uc010mty.2_Silent_p.L389L	p.L2463L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7726	-			2463			Sushi 18.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.7389C>G	CCDS48004.1																																																																																				0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	24	0	0	0	0	9	24				
KIF12	113220	broad.mit.edu	37	9	116859596	116859596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:116859596C>T	ENST00000374118.3	-	4	454	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	206	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGCAAAAGTTCCATCAGGGCC	0.607																																						uc004bif.2		NA																	0					0						c.(217-219)GAA>AAA		kinesin family member 12							47.0	46.0	47.0					9																	116859596		2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116859596C>T	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.217G>A	9.37:g.116859596C>T	ENSP00000363232:p.Glu73Lys					KIF12_uc004big.2_RNA	p.E73K	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			4	455	-			206			Kinesin-motor.		Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.217G>A	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278247	0.23307	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.74632	-0.86	5.36	4.4	0.53042	Kinesin, motor domain (4);	0.267293	0.32218	N	0.006402	T	0.57504	0.2058	N	0.20610	0.595	0.35198	D	0.774037	B	0.10296	0.003	B	0.13407	0.009	T	0.59936	-0.7360	10	0.23302	T	0.38	.	11.1948	0.48707	0.0:0.8146:0.1854:0.0	.	206	Q96FN5	KIF12_HUMAN	K	73;206	ENSP00000363232:E73K	ENSP00000259410:E206K	E	-	1	0	KIF12	115899417	0.660000	0.27420	0.999000	0.59377	0.292000	0.27327	0.729000	0.26028	2.481000	0.83766	0.555000	0.69702	GAA		0.607	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		3	21	0	0	0	0	3	21				
OR1N1	138883	broad.mit.edu	37	9	125288840	125288840	+	Missense_Mutation	SNP	C	C	T	rs151154516		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:125288840C>T	ENST00000304880.2	-	1	732	c.733G>A	c.(733-735)Gtt>Att	p.V245I		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACACAAACAACGCAGAGGTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		21717	0.0		0.0	False		,,,				2504	0.001					uc004bmn.1		NA																	0				upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						c.(733-735)GTT>ATT		olfactory receptor, family 1, subfamily N,		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	116.0	100.0	106.0		733	2.8	0.0	9	dbSNP_134	106	3,8597	3.0+/-9.4	0,3,4297	yes	missense	OR1N1	NM_012363.1	29	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	245/312	125288840	4,13002	2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125288840C>T	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.733G>A	9.37:g.125288840C>T	ENSP00000306974:p.Val245Ile						p.V245I	NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN			1	733	-			245			Helical; Name=6; (Potential).		A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.733G>A	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	c	17.31	3.356106	0.61293	2.27E-4	3.49E-4	ENSG00000171505	ENST00000304880	T	0.00253	8.43	3.75	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32357	U	0.006213	T	0.00241	0.0007	M	0.82132	2.575	0.19300	N	0.999977	B	0.23249	0.082	B	0.18871	0.023	T	0.33033	-0.9884	10	0.62326	D	0.03	.	10.5572	0.45125	0.0:0.9014:0.0:0.0986	.	245	Q8NGS0	OR1N1_HUMAN	I	245	ENSP00000306974:V245I	ENSP00000306974:V245I	V	-	1	0	OR1N1	124328661	0.000000	0.05858	0.006000	0.13384	0.920000	0.55202	0.067000	0.14510	0.824000	0.34613	-0.300000	0.09419	GTT		0.547	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			6	31	0	0	0	0	6	31				
MAMDC4	158056	broad.mit.edu	37	9	139749038	139749038	+	Missense_Mutation	SNP	C	C	T	rs368772199		TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr9:139749038C>T	ENST00000317446.2	+	8	894	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Missense_Mutation_p.R282C	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCATGGAACCGCTCGGAAGG	0.687																																						uc004cjs.2		NA																	0				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(844-846)CGC>TGC		apical early endosomal glycoprotein precursor		C	CYS/ARG	0,4362		0,0,2181	20.0	21.0	21.0		844	-0.3	0.0	9		21	2,8588		0,2,4293	no	missense	MAMDC4	NM_206920.2	180	0,2,6474	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	282/1138	139749038	2,12950	2181	4295	6476	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139749038C>T	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.844C>T	9.37:g.139749038C>T	ENSP00000319388:p.Arg282Cys					MAMDC4_uc011mej.1_5'UTR	p.R282C	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	8	894	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	282			MAM 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317446.2	37	c.844C>T	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.29|16.29	3.080583|3.080583	0.55753|0.55753	0.0|0.0	2.33E-4|2.33E-4	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.02236	.|4.38;4.38	4.61|4.61	-0.299|-0.299	0.12808|0.12808	.|.	.|1.422880	.|0.04649	.|N	.|0.406763	T|T	0.02848|0.02848	0.0085|0.0085	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|D	.|0.56521	.|0.976	.|B	.|0.43916	.|0.436	T|T	0.43048|0.43048	-0.9415|-0.9415	5|10	.|0.72032	.|D	.|0.01	-1.9291|-1.9291	4.9886|4.9886	0.14202|0.14202	0.4252:0.3973:0.0:0.1775|0.4252:0.3973:0.0:0.1775	.|.	.|282	.|Q6UXC1-2	.|.	L|C	263|282	.|ENSP00000319388:R282C;ENSP00000411339:R282C	.|ENSP00000319388:R282C	P|R	+|+	2|1	0|0	MAMDC4|MAMDC4	138868859|138868859	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.041000|0.041000	0.13927|0.13927	0.047000|0.047000	0.15862|0.15862	-0.314000|-0.314000	0.08810|0.08810	CCG|CGC		0.687	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		5	11	0	0	0	0	5	11				
NLGN4X	57502	broad.mit.edu	37	X	5821173	5821173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:5821173C>T	ENST00000381095.3	-	5	2173	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D516N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D516N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D536N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D516N	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	516					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGCATGACGTCGTTCTTGGAA	0.537																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1546-1548)GAC>AAC		X-linked neuroligin 4 precursor							126.0	100.0	109.0					X																	5821173		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821173C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1546G>A	X.37:g.5821173C>T	ENSP00000370485:p.Asp516Asn					NLGN4X_uc004crp.2_Missense_Mutation_p.D536N|NLGN4X_uc004crq.2_Missense_Mutation_p.D516N|NLGN4X_uc010ndi.2_Missense_Mutation_p.D553N|NLGN4X_uc004crr.2_Missense_Mutation_p.D516N|NLGN4X_uc010ndj.2_Missense_Mutation_p.D516N	p.D516N	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	2047	-			516			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1546G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173696	0.78452	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	3.8	3.8	0.43715	Carboxylesterase, type B (1);	.	.	.	.	T	0.78155	0.4239	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.83160	-0.0099	9	0.87932	D	0	.	14.2389	0.65945	0.0:1.0:0.0:0.0	.	573;516;536	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	516;536;516;516;516	ENSP00000370485:D516N;ENSP00000370483:D536N;ENSP00000275857:D516N;ENSP00000370482:D516N;ENSP00000439203:D516N	ENSP00000275857:D516N	D	-	1	0	NLGN4X	5831173	1.000000	0.71417	0.466000	0.27168	0.783000	0.44284	6.722000	0.74735	1.512000	0.48834	0.513000	0.50165	GAC		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		27	88	0	0	0	0	27	88				
CASK	8573	broad.mit.edu	37	X	41401990	41401990	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:41401990C>G	ENST00000378163.1	-	22	2583	c.2109G>C	c.(2107-2109)aaG>aaC	p.K703N	CASK_ENST00000361962.4_Missense_Mutation_p.K691N|CASK_ENST00000421587.2_Missense_Mutation_p.K674N|CASK_ENST00000442742.2_Missense_Mutation_p.K680N|CASK_ENST00000318588.9_Missense_Mutation_p.K703N|CASK_ENST00000378158.1_Missense_Mutation_p.K691N|CASK_ENST00000378166.4_Missense_Mutation_p.K703N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	703					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GCTTCTTTTTCTTGCCAAACC	0.418																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3		NA																	0				ovary(3)|lung(2)|stomach(1)	6						c.(2107-2109)AAG>AAC		calcium/calmodulin-dependent serine protein							174.0	131.0	145.0					X																	41401990		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41401990C>G	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2109G>C	X.37:g.41401990C>G	ENSP00000367405:p.Lys703Asn					CASK_uc004dfj.3_Missense_Mutation_p.K243N|CASK_uc004dfk.3_Missense_Mutation_p.K518N|CASK_uc004dfm.3_Missense_Mutation_p.K680N|CASK_uc004dfn.3_Missense_Mutation_p.K674N	p.K703N	NM_003688	NP_003679	O14936	CSKP_HUMAN			22	2155	-			703					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.2109G>C		.	.	.	.	.	.	.	.	.	.	C	17.31	3.358142	0.61403	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	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	5.73	5.73	0.89815	Src homology-3 domain (1);	0.000000	0.64402	D	0.000014	D	0.87767	0.6260	L	0.47016	1.485	0.80722	D	1	P;P;P;P;P	0.51791	0.948;0.908;0.756;0.902;0.568	P;P;P;P;B	0.61397	0.466;0.888;0.452;0.448;0.21	D	0.86055	0.1528	10	0.37606	T	0.19	.	19.1596	0.93526	0.0:1.0:0.0:0.0	.	674;680;703;703;295	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	N	674;703;691;703;295;158;691;703;680	ENSP00000400526:K674N;ENSP00000322727:K703N;ENSP00000354641:K691N;ENSP00000367405:K703N;ENSP00000367421:K295N;ENSP00000367410:K158N;ENSP00000367400:K691N;ENSP00000367408:K703N;ENSP00000398007:K680N	ENSP00000322727:K703N	K	-	3	2	CASK	41286934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.561000	0.86390	0.523000	0.50628	AAG		0.418	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		9	69	0	0	0	0	9	69				
USP11	8237	broad.mit.edu	37	X	47101692	47101692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47101692G>A	ENST00000218348.3	+	10	1520	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	USP11_ENST00000377107.2_Missense_Mutation_p.R464H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	507	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GATCCGCGCCGCAAGCCAGAG	0.542																																						uc004dhp.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1519-1521)CGC>CAC		ubiquitin specific peptidase 11							34.0	32.0	33.0					X																	47101692		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101692G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1520G>A	X.37:g.47101692G>A	ENSP00000218348:p.Arg507His					USP11_uc004dhq.2_Missense_Mutation_p.R234H	p.R507H	NM_004651	NP_004642	P51784	UBP11_HUMAN			10	1520	+			507					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1520G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880619	0.51801	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.21932	1.99;1.98	5.6	4.74	0.60224	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.237058	0.37393	N	0.002111	T	0.27629	0.0679	L	0.33668	1.02	0.36297	D	0.856786	D;D	0.76494	0.99;0.999	P;P	0.62491	0.86;0.903	T	0.11518	-1.0584	10	0.31617	T	0.26	-20.7792	8.7969	0.34885	0.1696:0.0:0.8304:0.0	.	234;507	B3KP28;P51784	.;UBP11_HUMAN	H	464;507	ENSP00000366311:R464H;ENSP00000218348:R507H	ENSP00000218348:R507H	R	+	2	0	USP11	46986636	0.004000	0.15560	1.000000	0.80357	0.980000	0.70556	1.027000	0.30115	2.346000	0.79739	0.600000	0.82982	CGC		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		6	22	0	0	0	0	6	22				
ZNF81	347344	broad.mit.edu	37	X	47774432	47774432	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:47774432A>T	ENST00000376954.1	+	6	755	c.387A>T	c.(385-387)ttA>ttT	p.L129F	ZNF81_ENST00000338637.7_Missense_Mutation_p.L129F			P51508	ZNF81_HUMAN	zinc finger protein 81	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTATTTTAGAAGAATTGT	0.353																																						uc010nhy.1		NA																	0					0						c.(385-387)TTA>TTT		zinc finger protein 81							33.0	28.0	30.0					X																	47774432		1839	4084	5923	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774432A>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.387A>T	X.37:g.47774432A>T	ENSP00000366153:p.Leu129Phe						p.L129F	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	755	+		all_lung(315;0.0973)	129					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.387A>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330726	0.24167	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.08634	3.07;3.07	3.79	2.56	0.30785	.	0.000000	0.34156	N	0.004206	T	0.04634	0.0126	L	0.27053	0.805	0.20563	N	0.999882	B	0.10296	0.003	B	0.06405	0.002	T	0.44997	-0.9291	10	0.08381	T	0.77	.	6.2551	0.20870	0.7444:0.2556:0.0:0.0	.	129	P51508	ZNF81_HUMAN	F	129	ENSP00000366153:L129F;ENSP00000341151:L129F	ENSP00000341151:L129F	L	+	3	2	ZNF81	47659376	1.000000	0.71417	0.985000	0.45067	0.657000	0.38888	1.463000	0.35277	0.604000	0.29930	0.486000	0.48141	TTA		0.353	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		21	25	0	0	0	0	21	25				
FGD1	2245	broad.mit.edu	37	X	54476096	54476096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:54476096G>A	ENST00000375135.3	-	14	2877	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	715					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTTACTGGAGAGTTGGGTGG	0.532																																						uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2143-2145)TCT>TTT		faciogenital dysplasia protein							131.0	132.0	132.0					X																	54476096		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54476096G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2144C>T	X.37:g.54476096G>A	ENSP00000364277:p.Ser715Phe					FGD1_uc011moi.1_Missense_Mutation_p.S473F	p.S715F	NM_004463	NP_004454	P98174	FGD1_HUMAN			14	2878	-			715					Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2144C>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678356	0.47886	.	.	ENSG00000102302	ENST00000375135	T	0.67171	-0.25	5.56	5.56	0.83823	Zinc finger, FYVE/PHD-type (1);	0.000000	0.50627	D	0.000110	T	0.65923	0.2738	N	0.24115	0.695	0.80722	D	1	B;D	0.58268	0.113;0.982	B;P	0.53360	0.046;0.724	T	0.69191	-0.5210	10	0.52906	T	0.07	-8.9078	17.2026	0.86910	0.0:0.0:1.0:0.0	.	473;715	B4DS99;P98174	.;FGD1_HUMAN	F	715	ENSP00000364277:S715F	ENSP00000364277:S715F	S	-	2	0	FGD1	54492821	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.952000	0.87827	2.329000	0.79093	0.513000	0.50165	TCT		0.532	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		11	126	0	0	0	0	11	126				
ZCCHC13	389874	broad.mit.edu	37	X	73524500	73524500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:73524500C>A	ENST00000339534.2	+	1	476	c.399C>A	c.(397-399)tgC>tgA	p.C133*		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C133C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTTACCGATGCGGCGAGATTG	0.552																																						uc004ebs.3		NA																	1	Substitution - coding silent(1)		kidney(1)		0						c.(397-399)TGC>TGA		zinc finger, CCHC domain containing 13							70.0	56.0	61.0					X																	73524500		2203	4300	6503	SO:0001587	stop_gained	389874						nucleic acid binding|zinc ion binding	g.chrX:73524500C>A	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.399C>A	X.37:g.73524500C>A	ENSP00000345633:p.Cys133*						p.C133*	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			1	476	+			133			CCHC-type 6.			Nonsense_Mutation	SNP	ENST00000339534.2	37	c.399C>A	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050837	0.36181	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	0.197	0.15164	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1439	0.20275	0.0:0.3437:0.0:0.6563	.	.	.	.	X	133	.	ENSP00000345633:C133X	C	+	3	2	ZCCHC13	73441225	1.000000	0.71417	0.771000	0.31576	0.085000	0.17905	1.908000	0.39907	-0.017000	0.14103	-0.513000	0.04457	TGC		0.552	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		13	28	1	0	0.00136819	0.00142594	13	28				
ATP7A	538	broad.mit.edu	37	X	77267139	77267139	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:77267139T>G	ENST00000341514.6	+	9	2295	c.2140T>G	c.(2140-2142)Ttg>Gtg	p.L714V	ATP7A_ENST00000343533.5_Missense_Mutation_p.L714V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	714					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGTTATGAATTTGCTGTCCTT	0.338																																						uc004ecx.3		NA																	0					0						c.(2140-2142)TTG>GTG		ATPase, Cu++ transporting, alpha polypeptide							226.0	214.0	218.0					X																	77267139		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77267139T>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2140T>G	X.37:g.77267139T>G	ENSP00000345728:p.Leu714Val					ATP7A_uc004ecw.2_3'UTR	p.L714V	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			9	2300	+			714			Extracellular (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.2140T>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	9.892	1.204541	0.22205	.	.	ENSG00000165240	ENST00000343533;ENST00000341514	D;D	0.97041	-4.22;-4.22	5.42	5.42	0.78866	.	0.084250	0.51477	D	0.000083	D	0.97362	0.9137	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.62184	0.899	D	0.96895	0.9656	10	0.48119	T	0.1	0.1109	9.1576	0.37002	0.0:0.0825:0.0:0.9175	.	714	Q04656	ATP7A_HUMAN	V	714	ENSP00000343026:L714V;ENSP00000345728:L714V	ENSP00000345728:L714V	L	+	1	2	ATP7A	77153795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.735000	0.62051	1.811000	0.52892	0.437000	0.28790	TTG		0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		97	184	0	0	0	0	97	184				
TBX22	50945	broad.mit.edu	37	X	79281158	79281158	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:79281158T>A	ENST00000373294.5	+	4	543	c.515T>A	c.(514-516)aTc>aAc	p.I172N	TBX22_ENST00000373291.1_Missense_Mutation_p.I52N|TBX22_ENST00000442340.1_Missense_Mutation_p.I52N|TBX22_ENST00000373296.3_Missense_Mutation_p.I172N	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	172					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTTGTGCATCATTCCTAGA	0.498																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(514-516)ATC>AAC		T-box 22 isoform 1							119.0	89.0	99.0					X																	79281158		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281158T>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.515T>A	X.37:g.79281158T>A	ENSP00000362390:p.Ile172Asn					TBX22_uc004edi.1_Missense_Mutation_p.I52N|TBX22_uc004edj.1_Missense_Mutation_p.I172N	p.I172N	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			5	649	+			172			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.515T>A	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.746131	0.49151	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.117868	0.56097	D	0.000039	D	0.91372	0.7278	L	0.60957	1.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91879	0.5514	10	0.72032	D	0.01	.	12.252	0.54603	0.0:0.0:0.0:1.0	.	172	Q9Y458	TBX22_HUMAN	N	172;52;172;52	ENSP00000362393:I172N;ENSP00000396394:I52N;ENSP00000362390:I172N;ENSP00000362388:I52N	ENSP00000362388:I52N	I	+	2	0	TBX22	79167814	1.000000	0.71417	0.630000	0.29268	0.009000	0.06853	4.690000	0.61731	1.567000	0.49668	0.486000	0.48141	ATC		0.498	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		17	62	0	0	0	0	17	62				
PCDH11X	27328	broad.mit.edu	37	X	91131788	91131788	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:91131788C>A	ENST00000373094.1	+	2	1394	c.549C>A	c.(547-549)aaC>aaA	p.N183K	PCDH11X_ENST00000298274.8_Missense_Mutation_p.N183K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N183K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N183K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N183K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	183	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGAGTCAAAACATTTTTGGCC	0.289																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(547-549)AAC>AAA		protocadherin 11 X-linked isoform c							38.0	34.0	36.0					X																	91131788		2196	4276	6472	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131788C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.549C>A	X.37:g.91131788C>A	ENSP00000362186:p.Asn183Lys					PCDH11X_uc004efl.1_Missense_Mutation_p.N183K|PCDH11X_uc004efo.1_Missense_Mutation_p.N183K|PCDH11X_uc010nmv.1_Missense_Mutation_p.N183K|PCDH11X_uc004efm.1_Missense_Mutation_p.N183K|PCDH11X_uc004efn.1_Missense_Mutation_p.N183K|PCDH11X_uc004efh.1_Missense_Mutation_p.N183K|PCDH11X_uc004efj.1_Missense_Mutation_p.N183K	p.N183K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1394	+			183			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.549C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	2.461	-0.324138	0.05350	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.69	0.989	0.19802	Cadherin (4);Cadherin-like (1);	0.261365	0.42682	D	0.000674	T	0.37320	0.0999	L	0.28274	0.84	0.36296	D	0.85674	B;B;B;B;B;P;B;B	0.35307	0.438;0.142;0.438;0.438;0.438;0.494;0.438;0.234	B;B;B;B;B;B;B;B	0.43155	0.197;0.209;0.287;0.287;0.287;0.41;0.197;0.197	T	0.36286	-0.9754	10	0.56958	D	0.05	.	7.6604	0.28400	0.0:0.2503:0.0:0.7497	.	183;183;183;183;183;183;183;183	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	K	183	ENSP00000378746:N183K;ENSP00000362186:N183K;ENSP00000362189:N183K;ENSP00000355040:N183K;ENSP00000362180:N183K;ENSP00000423762:N183K;ENSP00000355105:N183K;ENSP00000384758:N183K;ENSP00000298274:N183K	ENSP00000298274:N183K	N	+	3	2	PCDH11X	91018444	1.000000	0.71417	0.075000	0.20258	0.025000	0.11179	1.564000	0.36375	-0.180000	0.10637	-0.296000	0.09543	AAC		0.289	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		20	48	1	0	2.4e-15	2.68e-15	20	48				
TCEAL6	158931	broad.mit.edu	37	X	101396190	101396190	+	Silent	SNP	C	C	T			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:101396190C>T	ENST00000372774.3	-	3	363	c.114G>A	c.(112-114)gcG>gcA	p.A38A	TCEAL6_ENST00000372773.1_Silent_p.A38A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						tcttcccctccgcgtctggct	0.498																																						uc004eiq.2		NA																	0		p.A38T(1)		ovary(1)	1						c.(112-114)GCG>GCA		transcription elongation factor A (SII)-like 6							117.0	93.0	101.0					X																	101396190		2203	4300	6503	SO:0001819	synonymous_variant	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396190C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.114G>A	X.37:g.101396190C>T							p.A38A	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN			3	275	-			38			Glu-rich.		Q5H9J8	Silent	SNP	ENST00000372774.3	37	c.114G>A	CCDS43978.1																																																																																				0.498	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		11	53	0	0	0	0	11	53				
OCRL	4952	broad.mit.edu	37	X	128696645	128696645	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:128696645C>G	ENST00000371113.4	+	12	1291	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	OCRL_ENST00000357121.5_Missense_Mutation_p.L376V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	376	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAATTCCCATCTGGCTGCACA	0.428																																						uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4						c.(1126-1128)CTG>GTG		phosphatidylinositol polyphosphate 5-phosphatase							159.0	133.0	142.0					X																	128696645		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696645C>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1126C>G	X.37:g.128696645C>G	ENSP00000360154:p.Leu376Val					OCRL_uc004eur.2_Missense_Mutation_p.L376V	p.L376V	NM_000276	NP_000267	Q01968	OCRL_HUMAN			12	1291	+			376					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1126C>G	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344105	0.61073	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.97232	-4.3;-4.3	5.69	4.83	0.62350	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.99199	0.9722	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	D	0.97953	1.0333	10	0.72032	D	0.01	.	11.1744	0.48590	0.0:0.8435:0.0:0.1565	.	376;376	Q01968-2;Q01968	.;OCRL_HUMAN	V	376	ENSP00000360154:L376V;ENSP00000349635:L376V	ENSP00000349635:L376V	L	+	1	2	OCRL	128524326	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.979000	0.40608	1.162000	0.42619	0.513000	0.50165	CTG		0.428	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		21	96	0	0	0	0	21	96				
BCORL1	63035	broad.mit.edu	37	X	129159271	129159271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:129159271G>A	ENST00000218147.7	+	7	4192	c.3995G>A	c.(3994-3996)cGa>cAa	p.R1332Q	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1332Q|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000540052.1_Missense_Mutation_p.R1332Q			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1332					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)				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						AGGAAGAAACGAAGACGGCAG	0.582																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(3994-3996)CGA>CAA		BCL6 co-repressor-like 1							71.0	62.0	65.0					X																	129159271		2203	4299	6502	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159271G>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.3995G>A	X.37:g.129159271G>A	ENSP00000218147:p.Arg1332Gln					BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.R94Q	p.R1332Q	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			7	4109	+			1332			Nuclear localization signal (Potential).		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3995G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580554	0.86645	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.63913	-0.07;-0.03;-0.07;0.05	5.61	5.61	0.85477	.	0.000000	0.33005	N	0.005390	T	0.70527	0.3234	L	0.27053	0.805	0.45515	D	0.998471	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.73864	-0.3848	10	0.62326	D	0.03	-15.1561	18.5834	0.91180	0.0:0.0:1.0:0.0	.	1332;1332	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	Q	1332;1332;1332;932	ENSP00000218147:R1332Q;ENSP00000307541:R1332Q;ENSP00000437775:R1332Q;ENSP00000399483:R932Q	ENSP00000218147:R1332Q	R	+	2	0	BCORL1	128986952	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	7.764000	0.85297	2.331000	0.79229	0.513000	0.50165	CGA		0.582	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		42	39	0	0	0	0	42	39				
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:144337190G>A	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443																																						uc004fcb.2		NA																	2	Unknown(2)		lung(2)		0						c.e2-1		SPANX-N1 protein							85.0	82.0	83.0					X																	144337190		2203	4297	6500	SO:0001630	splice_region_variant	494118							g.chrX:144337190G>A		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.76-1G>A	X.37:g.144337190G>A							p.M26_splice	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			2	76	+	Acute lymphoblastic leukemia(192;6.56e-05)								Splice_Site	SNP	ENST00000370493.3	37	c.76_splice	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	0.135	-1.109476	0.01813	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.64	-2.36	0.06663	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5569	0.00672	0.1823:0.2389:0.3353:0.2435	.	.	.	.	.	-1	.	.	.	+	.	.	SPANXN1	144144882	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.699000	0.05087	-0.716000	0.04962	-2.006000	0.00442	.		0.443	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614	Intron	16	69	0	0	0	0	16	69				
CLCC1	23155	broad.mit.edu	37	1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr1:109479802_109479803delTC	ENST00000369971.2	-	10	1408_1409	c.1279_1280delGA	c.(1279-1281)gatfs	p.D427fs	CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.D242fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.D427fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.D306fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.D377fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.D242fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	427						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAAGTCAACATCTCTCTCTCTC	0.52																																						uc001dwe.1		NA																	0				liver(1)	1						c.(1279-1281)GATfs		Mid-1-related chloride channel 1 isoform 1																																				SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109479802_109479803delTC	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1279_1280delGA	1.37:g.109479812_109479813delTC	ENSP00000358988:p.Asp427fs					AKNAD1_uc010ovb.1_Intron|CLCC1_uc001dwf.1_Frame_Shift_Del_p.D427fs|CLCC1_uc001dwg.1_Frame_Shift_Del_p.D377fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.D306fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.D242fs	p.D427fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	10	1371_1372	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	427					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1279_1280delGA	CCDS41362.1																																																																																				0.520	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		21	55	NA	NA	NA	NA	21	55	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97043730	97043733	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr12:97043730_97043733delACAA	ENST00000524981.4	+	35	4775_4778	c.4752_4755delACAA	c.(4750-4755)acacaafs	p.TQ1584fs				Q96N23	CL055_HUMAN		201																	TGTCCAAGACACAAACAGTTTATG	0.299																																						uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(25-30)ACACAAfs		hypothetical protein LOC374467																																				SO:0001589	frameshift_variant	374467							g.chr12:97043730_97043733delACAA																												ENST00000524981.4:c.4752_4755delACAA	12.37:g.97043730_97043733delACAA	ENSP00000431759:p.Thr1584fs						p.T9fs	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			2	105_108	+			9_10						Frame_Shift_Del	DEL	ENST00000524981.4	37	c.27_30delACAA																																																																																					0.299	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			27	41	NA	NA	NA	NA	27	41	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23447637	23447651	+	In_Frame_Del	DEL	TGCACTTGATACAGG	TGCACTTGATACAGG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr14:23447637_23447651delTGCACTTGATACAGG	ENST00000262713.2	-	2	1385_1399	c.1010_1024delCCTGTATCAAGTGCA	c.(1009-1026)acctgtatcaagtgcaac>aac	p.TCIKC337del	AJUBA_ENST00000397388.3_5'Flank|AJUBA_ENST00000361265.4_In_Frame_Del_p.TCIKC337del|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	337	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ATGCCTTTGTTGCACTTGATACAGGTGCCTGAGAA	0.54																																						uc001whz.2		NA																	0					0						c.(1009-1026)ACCTGTATCAAGTGCAAC>AAC		ajuba isoform 1																																				SO:0001651	inframe_deletion	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23447637_23447651delTGCACTTGATACAGG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1010_1024delCCTGTATCAAGTGCA	14.37:g.23447637_23447651delTGCACTTGATACAGG	ENSP00000262713:p.Thr337_Cys341del					JUB_uc001why.2_5'Flank	p.TCIKC337del	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	2	1386_1400	-	all_cancers(95;4.6e-05)		337_341			LIM zinc-binding 1.		A8MX18|D3DS37	In_Frame_Del	DEL	ENST00000262713.2	37	c.1010_1024delCCTGTATCAAGTGCA	CCDS9581.1																																																																																				0.540	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			42	63	NA	NA	NA	NA	42	63	---	---	---	---
IMP3	55272	broad.mit.edu	37	15	75932053	75932054	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr15:75932053_75932054insGC	ENST00000314852.2	-	2	1399_1400	c.456_457insGC	c.(454-459)cgcagcfs	p.S153fs	IMP3_ENST00000565349.1_5'Flank|CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Frame_Shift_Ins_p.S153fs			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	141					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						TCCTCCATGCTGCGCGTGACAA	0.609																																						uc002bat.2		NA																	0					0						c.(454-459)CGCAGCfs		IMP3, U3 small nucleolar ribonucleoprotein																																				SO:0001589	frameshift_variant	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75932053_75932054insGC	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.455_456dupGC	15.37:g.75932056_75932057dupGC	ENSP00000326981:p.Ser153fs					IMP3_uc010bkl.1_Frame_Shift_Ins_p.R152fs	p.R152fs	NM_018285	NP_060755	Q9NV31	IMP3_HUMAN			2	1400_1401	-			152_153			S4 RNA-binding.		B2RDS0|Q8TAW1|Q96SZ8	Frame_Shift_Ins	INS	ENST00000314852.2	37	c.456_457insGC	CCDS10282.1																																																																																				0.609	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		37	106	NA	NA	NA	NA	37	106	---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7139476	7139484	+	In_Frame_Del	DEL	TCCTCTTCC	TCCTCTTCC	-	rs569508322	byFrequency	TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr17:7139476_7139484delTCCTCTTCC	ENST00000320316.3	-	4	988_996	c.762_770delGGAAGAGGA	c.(760-771)gaggaagaggaa>gaa	p.254_257EEEE>E	PHF23_ENST00000454255.2_In_Frame_Del_p.250_253EEEE>E|PHF23_ENST00000571362.1_In_Frame_Del_p.187_190EEEE>E|PHF23_ENST00000576955.1_In_Frame_Del_p.124_127EEEE>E|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	254	Poly-Glu.						zinc ion binding (GO:0008270)	p.E256E(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						ttcttcttcttcctcttcctcctcttcct	0.598														5	0.000998403	0.0008	0.0014	5008	,	,		18259	0.002		0.0	False		,,,				2504	0.001					uc002gfa.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(760-771)GAGGAAGAGGAA>GAA		PHD finger protein 23				6,3782		0,6,1888						-2.2	0.0			74	5,7949		1,3,3973	no	coding	PHF23	NM_024297.2		1,9,5861	A1A1,A1R,RR		0.0629,0.1584,0.0937				11,11731				SO:0001651	inframe_deletion	79142						zinc ion binding	g.chr17:7139476_7139484delTCCTCTTCC	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.762_770delGGAAGAGGA	17.37:g.7139485_7139493delTCCTCTTCC	ENSP00000322579:p.Glu257_Glu259del					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_In_Frame_Del_p.187_190EEEE>E|PHF23_uc010cma.2_In_Frame_Del_p.124_127EEEE>E	p.254_257EEEE>E	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			4	989_997	-			254_257			Poly-Glu.		A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	In_Frame_Del	DEL	ENST00000320316.3	37	c.762_770delGGAAGAGGA	CCDS42250.1																																																																																				0.598	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		8	131	NA	NA	NA	NA	8	131	---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50144226	50144227	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:50144226_50144227delAC	ENST00000347869.3	+	11	1057_1058	c.882_883delAC	c.(880-885)ttacagfs	p.Q295fs		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	295	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCAGATATTACAGAGTCTCCA	0.396																																						uc003cyg.2		NA																	0				lung(1)	1						c.(880-885)TTACAGfs		RNA binding motif protein 5																																				SO:0001589	frameshift_variant	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50144226_50144227delAC	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.882_883delAC	3.37:g.50144226_50144227delAC	ENSP00000343054:p.Gln295fs					RBM5_uc011bdj.1_Frame_Shift_Del_p.L238fs|RBM5_uc011bdk.1_Frame_Shift_Del_p.L122fs	p.L294fs	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1030_1031	+			294_295			RRM 2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Frame_Shift_Del	DEL	ENST00000347869.3	37	c.882_883delAC	CCDS2810.1																																																																																				0.396	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		24	31	NA	NA	NA	NA	24	31	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189526228	189526229	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chr3:189526228_189526229insA	ENST00000264731.3	+	4	581_582	c.492_493insA	c.(493-495)atcfs	p.I165fs	TP63_ENST00000392463.2_Frame_Shift_Ins_p.I71fs|TP63_ENST00000392460.3_Frame_Shift_Ins_p.I165fs|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Frame_Shift_Ins_p.I165fs|TP63_ENST00000392461.3_Frame_Shift_Ins_p.I71fs|TP63_ENST00000440651.2_Frame_Shift_Ins_p.I165fs|TP63_ENST00000456148.1_Frame_Shift_Ins_p.I71fs|TP63_ENST00000437221.1_Frame_Shift_Ins_p.I71fs|TP63_ENST00000354600.5_Frame_Shift_Ins_p.I71fs|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Frame_Shift_Ins_p.I165fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	165					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCACCCGCCATCCCCTCCAA	0.644										HNSCC(45;0.13)																												uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(490-495)GCCATCfs		tumor protein p63 isoform 1																																				SO:0001589	frameshift_variant	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526228_189526229insA	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.493dupA	3.37:g.189526229_189526229dupA	ENSP00000264731:p.Ile165fs	HNSCC(45;0.13)				TP63_uc003frx.2_Frame_Shift_Ins_p.A164fs|TP63_uc003frz.2_Frame_Shift_Ins_p.A164fs|TP63_uc010hzc.1_Frame_Shift_Ins_p.A164fs|TP63_uc003fsa.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsb.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsc.2_Frame_Shift_Ins_p.A70fs|TP63_uc003fsd.2_Frame_Shift_Ins_p.A70fs|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Frame_Shift_Ins_p.A45fs	p.A164fs	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	581_582	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		164_165					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Frame_Shift_Ins	INS	ENST00000264731.3	37	c.492_493insA	CCDS3293.1																																																																																				0.644	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		26	56	NA	NA	NA	NA	26	56	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694331	109694332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6003-01A-11D-1683-08	TCGA-CV-6003-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9a040a5e-3d2b-433a-9786-7c26b433c0c2	b2300f2e-710b-48ba-9a65-ae9742efe92d	g.chrX:109694331_109694332delAG	ENST00000465301.2	+	3	732_733	c.486_487delAG	c.(484-489)gcagagfs	p.E163fs	RGAG1_ENST00000540313.1_Frame_Shift_Del_p.E163fs	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	163										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGATTCTGCAGAGATATCACC	0.48																																						uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(484-489)GCAGAGfs		retrotransposon gag domain containing 1																																				SO:0001589	frameshift_variant	57529							g.chrX:109694331_109694332delAG	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.486_487delAG	X.37:g.109694333_109694334delAG	ENSP00000419786:p.Glu163fs					RGAG1_uc011msr.1_Frame_Shift_Del_p.A162fs	p.A162fs	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	732_733	+			162_163					Q9P2M8	Frame_Shift_Del	DEL	ENST00000465301.2	37	c.486_487delAG	CCDS14552.1																																																																																				0.480	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		16	111	NA	NA	NA	NA	16	111	---	---	---	---
