#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
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						uc009vos.1		NA																	0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	53	0	0	0	0	5	53				
UBR4	23352	broad.mit.edu	37	1	19478948	19478948	+	Silent	SNP	C	C	T	rs368349337		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:19478948C>T	ENST00000375254.3	-	47	6882	c.6855G>A	c.(6853-6855)gtG>gtA	p.V2285V	UBR4_ENST00000375226.2_Silent_p.V2285V|UBR4_ENST00000375267.2_Silent_p.V2285V|UBR4_ENST00000375217.2_Silent_p.V2285V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2285					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGAAAGTCACCTGGCTAG	0.507																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(6853-6855)GTG>GTA		retinoblastoma-associated factor 600		C		1,4405	2.1+/-5.4	0,1,2202	144.0	144.0	144.0		6855	3.4	1.0	1		144	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2285/5184	19478948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19478948C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6855G>A	1.37:g.19478948C>T						UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Silent_p.V222V|UBR4_uc001bbm.1_Silent_p.V1497V	p.V2285V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	47	6859	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2285					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.6855G>A	CCDS189.1																																																																																				0.507	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	153	0	0	0	0	8	153				
THEMIS2	9473	broad.mit.edu	37	1	28208651	28208651	+	Silent	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:28208651C>G	ENST00000373921.3	+	4	820	c.816C>G	c.(814-816)cgC>cgG	p.R272R	THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	272	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGAGGGCCGCCCCATCTTCC	0.632																																						uc001bpc.3		NA																	0				ovary(1)	1						c.(814-816)CGC>CGG		basement membrane-induced gene isoform 3							39.0	41.0	40.0					1																	28208651		1958	4144	6102	SO:0001819	synonymous_variant	9473				cell adhesion|inflammatory response			g.chr1:28208651C>G	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.816C>G	1.37:g.28208651C>G						C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Intron	p.R272R	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	4	844	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	272			CABIT 2.		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.816C>G	CCDS41290.1																																																																																				0.632	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		14	35	0	0	0	0	14	35				
COL9A2	1298	broad.mit.edu	37	1	40775985	40775985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:40775985G>A	ENST00000372748.3	-	14	785	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	230	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GATGCCCTGGGGACCCTGTTG	0.527																																						uc001cfh.1		NA																	0				ovary(2)	2						c.(688-690)CCC>CTC		alpha 2 type IX collagen precursor							69.0	66.0	67.0					1																	40775985		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40775985G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.689C>T	1.37:g.40775985G>A	ENSP00000361834:p.Pro230Leu					COL9A2_uc001cfi.1_Missense_Mutation_p.P49L	p.P230L	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		14	759	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	230			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.689C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.514237	0.64522	.	.	ENSG00000049089	ENST00000372748	D	0.96685	-4.09	4.67	4.67	0.58626	.	0.056699	0.64402	D	0.000001	D	0.96700	0.8923	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95454	0.8537	10	0.29301	T	0.29	.	13.1595	0.59537	0.0:0.0:1.0:0.0	.	230	Q14055	CO9A2_HUMAN	L	230	ENSP00000361834:P230L	ENSP00000361834:P230L	P	-	2	0	COL9A2	40548572	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	5.581000	0.67471	2.170000	0.68504	0.558000	0.71614	CCC		0.527	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		6	71	0	0	0	0	6	71				
PTGFR	5737	broad.mit.edu	37	1	78958948	78958948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:78958948C>T	ENST00000370757.3	+	2	757	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	PTGFR_ENST00000370756.3_Missense_Mutation_p.H174Y|PTGFR_ENST00000370758.1_Missense_Mutation_p.H174Y	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	174					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CATCCTTGGACATCGAGACTA	0.368																																						uc001din.2		NA																	0				ovary(3)|breast(2)|skin(1)	6						c.(520-522)CAT>TAT		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						164.0	165.0	164.0					1																	78958948		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78958948C>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.520C>T	1.37:g.78958948C>T	ENSP00000359793:p.His174Tyr					PTGFR_uc001dim.2_Missense_Mutation_p.H174Y	p.H174Y	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	786	+			174			Helical; Name=4; (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.520C>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	0.251	-1.006648	0.02112	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.36340	1.26;1.26;1.26	5.85	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.887861	0.10133	N	0.711781	T	0.03608	0.0103	N	0.03608	-0.345	0.19945	N	0.99994	B;B	0.18741	0.012;0.03	B;B	0.21360	0.023;0.034	T	0.42965	-0.9420	10	0.09084	T	0.74	-5.4241	1.8422	0.03152	0.3488:0.3619:0.1697:0.1196	.	174;174	P43088;P43088-2	PF2R_HUMAN;.	Y	174	ENSP00000359794:H174Y;ENSP00000359793:H174Y;ENSP00000359792:H174Y	ENSP00000359792:H174Y	H	+	1	0	PTGFR	78731536	0.004000	0.15560	1.000000	0.80357	0.998000	0.95712	0.016000	0.13377	0.897000	0.36392	0.655000	0.94253	CAT		0.368	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		11	131	0	0	0	0	11	131				
WDR63	126820	broad.mit.edu	37	1	85560225	85560225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:85560225C>T	ENST00000294664.6	+	10	1340	c.1160C>T	c.(1159-1161)cCt>cTt	p.P387L	WDR63_ENST00000326813.8_Missense_Mutation_p.P348L|WDR63_ENST00000370596.1_Missense_Mutation_p.P348L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	387										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTCTCTGATCCTATACATCCT	0.383																																						uc001dkt.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1159-1161)CCT>CTT		WD repeat domain 63							167.0	166.0	166.0					1																	85560225		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85560225C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1160C>T	1.37:g.85560225C>T	ENSP00000294664:p.Pro387Leu					WDR63_uc009wcl.2_Missense_Mutation_p.P348L	p.P387L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	10	1351	+			387					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1160C>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110983	0.77210	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	D;D;D	0.86432	-2.12;-2.12;-2.12	5.69	5.69	0.88448	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.095503	0.64402	D	0.000001	D	0.90038	0.6889	M	0.71036	2.16	0.80722	D	1	P;P	0.52842	0.956;0.873	P;P	0.55965	0.785;0.788	D	0.87780	0.2611	10	0.34782	T	0.22	-28.0409	19.8209	0.96592	0.0:1.0:0.0:0.0	.	348;387	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	348;348;387	ENSP00000359628:P348L;ENSP00000317463:P348L;ENSP00000294664:P387L	ENSP00000294664:P387L	P	+	2	0	WDR63	85332813	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.950000	0.63603	2.688000	0.91661	0.650000	0.86243	CCT		0.383	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		6	183	0	0	0	0	6	183				
CLCA4	22802	broad.mit.edu	37	1	87031654	87031654	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:87031654T>C	ENST00000370563.3	+	6	947	c.905T>C	c.(904-906)aTc>aCc	p.I302T	CLCA4_ENST00000263723.5_Missense_Mutation_p.I15T	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	302					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGCTGAAGATCAGTCAAAGA	0.413																																						uc009wcs.2		NA																	0				ovary(2)	2						c.(904-906)ATC>ACC		chloride channel accessory 4							147.0	139.0	142.0					1																	87031654		1901	4131	6032	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031654T>C	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.905T>C	1.37:g.87031654T>C	ENSP00000359594:p.Ile302Thr					CLCA4_uc009wct.2_Missense_Mutation_p.I65T|CLCA4_uc009wcu.2_Missense_Mutation_p.I122T	p.I302T	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	949	+		Lung NSC(277;0.238)	302					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.905T>C	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	9.211	1.030873	0.19590	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.11821	4.19;2.74	6.17	3.86	0.44501	.	0.910534	0.09383	N	0.809709	T	0.04724	0.0128	M	0.62723	1.935	0.09310	N	1	B	0.20671	0.047	B	0.28139	0.086	T	0.49263	-0.8958	10	0.11794	T	0.64	-2.3236	5.5377	0.17021	0.1267:0.1473:0.0:0.726	.	302	Q14CN2	CLCA4_HUMAN	T	302;15	ENSP00000359594:I302T;ENSP00000263723:I15T	ENSP00000263723:I15T	I	+	2	0	CLCA4	86804242	0.001000	0.12720	0.044000	0.18714	0.978000	0.69477	-0.131000	0.10482	0.562000	0.29204	0.533000	0.62120	ATC		0.413	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		25	84	0	0	0	0	25	84				
SLC6A17	388662	broad.mit.edu	37	1	110709557	110709557	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:110709557G>A	ENST00000331565.4	+	2	491	c.6G>A	c.(4-6)ccG>ccA	p.P2P	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	2					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CATCAATGCCGAAGAACAGCA	0.572																																						uc009wfq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(4-6)CCG>CCA		solute carrier family 6, member 17							49.0	45.0	47.0					1																	110709557		2203	4300	6503	SO:0001819	synonymous_variant	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110709557G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.6G>A	1.37:g.110709557G>A							p.P2P	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	2	467	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	2			Cytoplasmic (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	c.6G>A	CCDS30799.1																																																																																				0.572	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		12	11	0	0	0	0	12	11				
NBPF15	284565	broad.mit.edu	37	1	148594513	148594513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:148594513G>A	ENST00000369187.3	+	19	2375	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	NBPF15_ENST00000442702.2_Missense_Mutation_p.R629K	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	629	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGCACTACAGAAGTGTGTTT	0.438																																						uc001esc.2		NA																	0					0						c.(1885-1887)AGA>AAA		hypothetical protein LOC284565							209.0	278.0	255.0					1																	148594513		2172	4294	6466	SO:0001583	missense	284565					cytoplasm		g.chr1:148594513G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1886G>A	1.37:g.148594513G>A	ENSP00000358188:p.Arg629Lys						p.R629K	NM_173638	NP_775909	Q8N660	NBPFF_HUMAN			19	2375	+	all_hematologic(923;0.032)		629			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1886G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	7.052	0.564714	0.13498	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.06849	3.25;3.25	0.502	-1.0	0.10196	DUF1220 (2);	.	.	.	.	T	0.03739	0.0106	M	0.72353	2.195	0.09310	N	1	B	0.22003	0.063	B	0.30316	0.114	T	0.42068	-0.9473	8	0.62326	D	0.03	.	.	.	.	.	629	Q8N660	NBPFF_HUMAN	K	629	ENSP00000416864:R629K;ENSP00000358188:R629K	ENSP00000358188:R629K	R	+	2	0	NBPF15	146861137	0.489000	0.26004	0.001000	0.08648	0.001000	0.01503	0.895000	0.28363	-0.348000	0.08286	-0.561000	0.04177	AGA		0.438	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		18	421	0	0	0	0	18	421				
FCRL4	83417	broad.mit.edu	37	1	157557115	157557115	+	Silent	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:157557115C>G	ENST00000271532.1	-	5	933	c.798G>C	c.(796-798)gtG>gtC	p.V266V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	266	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGTTACCCCTCACTGTTTCAG	0.572																																						uc001fqw.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(796-798)GTG>GTC		Fc receptor-like 4 precursor							246.0	240.0	242.0					1																	157557115		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557115C>G	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.798G>C	1.37:g.157557115C>G						FCRL4_uc010phy.1_RNA	p.V266V	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN			5	934	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	266			Ig-like C2-type 3.|Extracellular (Potential).		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.798G>C	CCDS1166.1																																																																																				0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		108	218	0	0	0	0	108	218				
CFHR2	3080	broad.mit.edu	37	1	196871631	196871631	+	Intron	SNP	G	G	T	rs368555895		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:196871631G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Missense_Mutation_p.A48S|CFHR4_ENST00000367418.2_Missense_Mutation_p.A48S|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.A47S			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCCAGCAGCTGCAGGACAATC	0.363																																						uc001gto.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(142-144)GCA>TCA		complement factor H-related 4 precursor							132.0	138.0	136.0					1																	196871631		2078	4256	6334	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196871631G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46954G>T	1.37:g.196871631G>T						CFHR4_uc009wyy.2_Missense_Mutation_p.A47S|CFHR4_uc001gtp.2_Missense_Mutation_p.A48S	p.A48S	NM_006684	NP_006675	Q92496	FHR4_HUMAN			2	211	+			48			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.142G>T		.	.	.	.	.	.	.	.	.	.	.	13.13	2.146752	0.37923	.	.	ENSG00000134365	ENST00000367416;ENST00000251424;ENST00000538553	T;T	0.64260	-0.09;-0.09	3.41	-3.96	0.04106	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.53094	0.1775	N	0.14661	0.345	0.09310	N	1	B;D;P	0.63046	0.178;0.992;0.566	B;P;B	0.60068	0.105;0.868;0.438	T	0.51710	-0.8671	9	0.23302	T	0.38	.	9.4907	0.38958	0.3017:0.0:0.6983:0.0	.	47;48;48	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	S	47;48;48	ENSP00000356386:A47S;ENSP00000251424:A48S	ENSP00000251424:A48S	A	+	1	0	CFHR4	195138254	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.657000	0.05335	-0.854000	0.04131	-0.484000	0.04775	GCA		0.363	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		20	117	1	0	4.35e-09	4.93e-09	20	117				
USH2A	7399	broad.mit.edu	37	1	215955425	215955425	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:215955425G>T	ENST00000307340.3	-	54	11085	c.10699C>A	c.(10699-10701)Ctg>Atg	p.L3567M	USH2A_ENST00000366943.2_Missense_Mutation_p.L3567M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3567	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGCTTTCAGCTGATATGAA	0.438										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10699-10701)CTG>ATG		usherin isoform B							96.0	95.0	95.0					1																	215955425		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215955425G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10699C>A	1.37:g.215955425G>T	ENSP00000305941:p.Leu3567Met	HNSCC(13;0.011)					p.L3567M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	54	11086	-			3567			Extracellular (Potential).|Fibronectin type-III 20.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10699C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115017	0.77210	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.86	4.95	0.65309	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35495	N	0.003165	T	0.71031	0.3292	M	0.78223	2.4	0.47949	D	0.999556	D	0.89917	1.0	D	0.87578	0.998	T	0.74624	-0.3603	10	0.72032	D	0.01	.	11.1351	0.48370	0.14:0.0:0.86:0.0	.	3567	O75445	USH2A_HUMAN	M	3567	ENSP00000305941:L3567M;ENSP00000355910:L3567M	ENSP00000305941:L3567M	L	-	1	2	USH2A	214022048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	1.626000	0.50381	0.650000	0.86243	CTG		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	64	1	0	2.42e-17	2.79e-17	26	64				
ADAMTS14	140766	broad.mit.edu	37	10	72511852	72511852	+	Splice_Site	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:72511852G>T	ENST00000373207.1	+	18	2598	c.2598G>T	c.(2596-2598)ggG>ggT	p.G866G	ADAMTS14_ENST00000373208.1_Splice_Site_p.G869G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	866	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCCATAGGGATCCAGTTCA	0.662																																						uc001jrh.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(2596-2598)GGG>GGT		ADAM metallopeptidase with thrombospondin type 1							32.0	34.0	33.0					10																	72511852		2199	4298	6497	SO:0001630	splice_region_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72511852G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2597-1G>T	10.37:g.72511852G>T						ADAMTS14_uc001jrg.2_Silent_p.G869G	p.G866G	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			18	2598	+			866			TSP type-1 2.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.2598G>T	CCDS7306.1																																																																																				0.662	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	Silent	8	20	1	0	0.00307968	0.00319889	8	20				
BLNK	29760	broad.mit.edu	37	10	97956812	97956812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:97956812G>C	ENST00000224337.5	-	16	1244	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	BLNK_ENST00000413476.2_Intron|BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Nonsense_Mutation_p.S345*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	368	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATAAGAAATGATCCATCCTG	0.274																																						uc001kls.3		NA																	0				skin(2)	2						c.(1102-1104)TCA>TGA		B-cell linker isoform 1							58.0	58.0	58.0					10																	97956812		2203	4298	6501	SO:0001587	stop_gained	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97956812G>C	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1103C>G	10.37:g.97956812G>C	ENSP00000224337:p.Ser368*					BLNK_uc001kme.3_Nonsense_Mutation_p.S263*|BLNK_uc001klt.3_Nonsense_Mutation_p.S259*|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Intron|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Nonsense_Mutation_p.S345*|BLNK_uc001kly.3_Intron|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Intron|BLNK_uc001kmb.3_Nonsense_Mutation_p.S164*|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Nonsense_Mutation_p.S286*|BLNK_uc009xvd.2_RNA	p.S368*	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	16	1281	-		Colorectal(252;0.083)	368			SH2.		O75498|O75499|Q2MD49	Nonsense_Mutation	SNP	ENST00000224337.5	37	c.1103C>G	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	37	6.054042	0.97241	.	.	ENSG00000095585	ENST00000224337;ENST00000371176	.	.	.	5.06	5.06	0.68205	.	0.065161	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.3544	17.5735	0.87941	0.0:0.0:1.0:0.0	.	.	.	.	X	368;345	.	ENSP00000224337:S368X	S	-	2	0	BLNK	97946802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.436000	0.90300	2.498000	0.84270	0.655000	0.94253	TCA		0.274	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		5	36	0	0	0	0	5	36				
JAKMIP3	282973	broad.mit.edu	37	10	133962932	133962932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr10:133962932C>T	ENST00000298622.4	+	14	2003	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	622						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGAGGAAGTCACCCGCCATC	0.647																																						uc001lkx.3		NA																	0				breast(1)	1						c.(1864-1866)TCA>TTA		Janus kinase and microtubule interacting protein							75.0	53.0	60.0					10																	133962932		2182	4285	6467	SO:0001583	missense	282973							g.chr10:133962932C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1865C>T	10.37:g.133962932C>T	ENSP00000298622:p.Ser622Leu					JAKMIP3_uc009yba.1_Missense_Mutation_p.S59L	p.S622L	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	14	1865	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1865C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082954	0.76642	.	.	ENSG00000188385	ENST00000298622	T	0.36699	1.24	3.8	3.8	0.43715	.	.	.	.	.	T	0.55242	0.1908	M	0.68317	2.08	0.46521	D	0.999082	D;P	0.71674	0.998;0.844	D;B	0.66979	0.948;0.349	T	0.55939	-0.8061	9	0.33141	T	0.24	.	15.6558	0.77133	0.0:1.0:0.0:0.0	.	59;622	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	L	622	ENSP00000298622:S622L	ENSP00000298622:S622L	S	+	2	0	JAKMIP3	133812922	1.000000	0.71417	0.830000	0.32933	0.663000	0.39108	6.813000	0.75231	1.651000	0.50673	0.290000	0.19541	TCA		0.647	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		6	12	0	0	0	0	6	12				
ART1	417	broad.mit.edu	37	11	3680852	3680852	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:3680852C>G	ENST00000250693.1	+	3	204	c.103C>G	c.(103-105)Caa>Gaa	p.Q35E		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	35					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCTCTTCTCTCAAGAGATTCA	0.602																																						uc001lye.1		NA																	0					0						c.(103-105)CAA>GAA		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						57.0	56.0	56.0					11																	3680852		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3680852C>G	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.103C>G	11.37:g.3680852C>G	ENSP00000250693:p.Gln35Glu					ART1_uc009yeb.1_Missense_Mutation_p.Q35E	p.Q35E	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	204	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	35					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.103C>G	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795603	0.31777	.	.	ENSG00000129744	ENST00000250693	T	0.07908	3.15	5.53	3.6	0.41247	.	0.546395	0.18430	N	0.141454	T	0.06416	0.0165	N	0.24115	0.695	0.23841	N	0.996695	B	0.24483	0.104	B	0.25140	0.058	T	0.38351	-0.9665	9	.	.	.	.	11.6466	0.51265	0.468:0.5319:0.0:0.0	.	35	P52961	NAR1_HUMAN	E	35	ENSP00000250693:Q35E	.	Q	+	1	0	ART1	3637428	0.000000	0.05858	0.912000	0.35992	0.776000	0.43924	-0.003000	0.12901	0.643000	0.30638	0.467000	0.42956	CAA		0.602	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		12	38	0	0	0	0	12	38				
UBQLNL	143630	broad.mit.edu	37	11	5537578	5537578	+	Missense_Mutation	SNP	G	G	C	rs140401116		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:5537578G>C	ENST00000380184.1	-	1	357	c.94C>G	c.(94-96)Cga>Gga	p.R32G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	32	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACTATCACTCGAGTGGCACTT	0.483																																						uc001maz.3		NA																	0				large_intestine(2)|skin(1)	3						c.(94-96)CGA>GGA		ubiquilin-like							115.0	107.0	109.0					11																	5537578		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537578G>C	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.94C>G	11.37:g.5537578G>C	ENSP00000369531:p.Arg32Gly					HBG2_uc001mak.1_Intron	p.R32G	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	379	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	32			Ubiquitin-like.		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.94C>G	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577989	0.28180	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.44482	0.92	5.47	0.651	0.17817	Ubiquitin supergroup (1);Ubiquitin (1);	0.173521	0.26265	N	0.025366	T	0.42337	0.1198	M	0.70275	2.135	0.09310	N	1	P	0.47106	0.89	B	0.41917	0.37	T	0.46665	-0.9175	10	0.87932	D	0	.	12.8915	0.58073	0.0:0.0:0.4498:0.5502	.	32	Q8IYU4	UBQLN_HUMAN	G	32	ENSP00000369531:R32G	ENSP00000369531:R32G	R	-	1	2	UBQLNL	5494154	0.004000	0.15560	0.244000	0.24202	0.305000	0.27757	0.458000	0.21892	0.222000	0.20900	0.650000	0.86243	CGA		0.483	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		4	91	0	0	0	0	4	91				
KIF18A	81930	broad.mit.edu	37	11	28084055	28084055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:28084055C>A	ENST00000263181.6	-	12	1889	c.1599G>T	c.(1597-1599)aaG>aaT	p.K533N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	533					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GAAGATCTTTCTTGAGTTCCT	0.323																																						uc001msc.2		NA																	0				ovary(2)	2						c.(1597-1599)AAG>AAT		kinesin family member 18A							164.0	146.0	152.0					11																	28084055		2202	4299	6501	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28084055C>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1599G>T	11.37:g.28084055C>A	ENSP00000263181:p.Lys533Asn						p.K533N	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			12	1781	-			533					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1599G>T	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	0.074	-1.196058	0.01594	.	.	ENSG00000121621	ENST00000263181	T	0.72167	-0.63	5.64	2.03	0.26663	.	0.791492	0.12650	N	0.450482	T	0.32102	0.0818	N	0.01048	-1.04	0.21933	N	0.999464	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.13108	T	0.6	.	1.6983	0.02866	0.4444:0.2877:0.1391:0.1289	.	533	Q8NI77	KI18A_HUMAN	N	533	ENSP00000263181:K533N	ENSP00000263181:K533N	K	-	3	2	KIF18A	28040631	0.015000	0.18098	0.917000	0.36280	0.331000	0.28603	0.206000	0.17375	0.388000	0.25054	-1.057000	0.02308	AAG		0.323	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		22	49	1	0	4.4e-07	4.9e-07	22	49				
SCYL1	57410	broad.mit.edu	37	11	65304114	65304114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:65304114C>T	ENST00000270176.5	+	13	1786	c.1709C>T	c.(1708-1710)gCa>gTa	p.A570V	SCYL1_ENST00000533862.1_Missense_Mutation_p.A570V|SCYL1_ENST00000524944.1_Missense_Mutation_p.A570V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A570V|SCYL1_ENST00000525364.1_Missense_Mutation_p.A570V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A427V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A570V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	570					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GCTAGCTGGGCAGGCTGGGCC	0.627																																						uc001oea.1		NA																	0				skin(1)	1						c.(1708-1710)GCA>GTA		SCY1-like 1 isoform A							71.0	84.0	80.0					11																	65304114		2116	4231	6347	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65304114C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1709C>T	11.37:g.65304114C>T	ENSP00000270176:p.Ala570Val					SCYL1_uc009yqk.2_Missense_Mutation_p.A570V|SCYL1_uc001oeb.1_Missense_Mutation_p.A570V|SCYL1_uc001oec.1_Missense_Mutation_p.A570V|SCYL1_uc001oed.1_Missense_Mutation_p.A427V|SCYL1_uc001oee.1_Missense_Mutation_p.A214V	p.A570V	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			13	1786	+			570					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1709C>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	C	36	5.837671	0.97009	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009;ENST00000528545	T;T;T;T;T;T;T;T;T	0.56103	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;0.48	5.15	5.15	0.70609	.	0.244811	0.39083	N	0.001472	T	0.74989	0.3789	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.965;0.991;0.998	D;D;P;D;D	0.72338	0.948;0.977;0.701;0.92;0.948	T	0.79011	-0.1977	10	0.59425	D	0.04	-5.0073	16.1086	0.81244	0.0:1.0:0.0:0.0	.	570;570;570;570;570	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	V	570;570;570;570;570;570;570;570;427;43	ENSP00000270176:A570V;ENSP00000431635:A570V;ENSP00000408192:A570V;ENSP00000437254:A570V;ENSP00000433450:A570V;ENSP00000279270:A570V;ENSP00000432175:A570V;ENSP00000436993:A427V;ENSP00000433604:A43V	ENSP00000270176:A570V	A	+	2	0	SCYL1	65060690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.841000	0.75374	2.403000	0.81681	0.462000	0.41574	GCA		0.627	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		12	67	0	0	0	0	12	67				
SYT12	91683	broad.mit.edu	37	11	66811318	66811318	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:66811318G>A	ENST00000393946.2	+	8	1993	c.831G>A	c.(829-831)caG>caA	p.Q277Q	SYT12_ENST00000525457.1_Silent_p.Q277Q|SYT12_ENST00000527043.1_Silent_p.Q277Q			Q8IV01	SYT12_HUMAN	synaptotagmin XII	277						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TACAGGACCAGAACAAGGTAA	0.552																																					Ovarian(65;2862 3307)	uc009yrl.2		NA																	0				ovary(1)	1						c.(829-831)CAG>CAA		synaptotagmin XII							82.0	61.0	68.0					11																	66811318		2200	4295	6495	SO:0001819	synonymous_variant	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66811318G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.831G>A	11.37:g.66811318G>A						SYT12_uc001oju.2_Silent_p.Q277Q	p.Q277Q	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN			5	1061	+			277			Cytoplasmic (Potential).			Silent	SNP	ENST00000393946.2	37	c.831G>A	CCDS8154.1																																																																																				0.552	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		14	49	0	0	0	0	14	49				
ANO1	55107	broad.mit.edu	37	11	70007358	70007358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:70007358G>A	ENST00000355303.5	+	17	1975	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ANO1_ENST00000538023.1_Missense_Mutation_p.R557Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R411Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R411Q|ANO1_ENST00000316296.5_Missense_Mutation_p.R499Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R266Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	557					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCCTCCGTGCGGTCCAACATC	0.592																																						uc001opj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1669-1671)CGG>CAG		anoctamin 1, calcium activated chloride channel							89.0	94.0	92.0					11																	70007358		2168	4245	6413	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007358G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1670G>A	11.37:g.70007358G>A	ENSP00000347454:p.Arg557Gln					ANO1_uc001opk.1_Missense_Mutation_p.R499Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R266Q	p.R557Q	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN			17	1975	+			557			Extracellular (Potential).		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.1670G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658504	0.67586	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;D	0.88509	-0.06;-0.16;-0.5;0.22;-0.5;-0.19;-2.39	5.29	5.29	0.74685	.	0.073354	0.56097	D	0.000027	D	0.91304	0.7258	L	0.41027	1.25	0.53688	D	0.999971	D;D;D	0.69078	0.992;0.982;0.997	P;P;P	0.62649	0.794;0.84;0.905	D	0.90248	0.4291	9	.	.	.	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	266;499;557	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	Q	557;557;411;315;499;411;266;108	ENSP00000347454:R557Q;ENSP00000444689:R557Q;ENSP00000381551:R411Q;ENSP00000319477:R499Q;ENSP00000435797:R411Q;ENSP00000432843:R266Q;ENSP00000435868:R108Q	.	R	+	2	0	ANO1	69685006	0.921000	0.31238	1.000000	0.80357	0.884000	0.51177	4.663000	0.61532	2.460000	0.83146	0.655000	0.94253	CGG		0.592	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		23	69	0	0	0	0	23	69				
FZD4	8322	broad.mit.edu	37	11	86662820	86662820	+	Silent	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:86662820A>G	ENST00000531380.1	-	2	1283	c.978T>C	c.(976-978)acT>acC	p.T326T	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	326					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAAAAACCAAGTGAGTGTCA	0.453																																						uc001pce.2		NA																	0				large_intestine(1)	1						c.(976-978)ACT>ACC		frizzled 4 precursor							54.0	53.0	53.0					11																	86662820		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662820A>G	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.978T>C	11.37:g.86662820A>G						PRSS23_uc001pcc.1_RNA	p.T326T	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN			2	1284	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	326			Cytoplasmic (Potential).		A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.978T>C	CCDS8279.1																																																																																				0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		4	22	0	0	0	0	4	22				
WNK1	65125	broad.mit.edu	37	12	989016	989016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:989016C>T	ENST00000315939.6	+	11	3294	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.A477V|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1382V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	884					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAACAGCTGCGATCCCGGGG	0.547																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(2650-2652)GCG>GTG		WNK lysine deficient protein kinase 1							132.0	111.0	118.0					12																	989016		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989016C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2651C>T	12.37:g.989016C>T	ENSP00000313059:p.Ala884Val					WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.A884V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3158	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		884					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2651C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515959	0.27123	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.75	2.9	0.33743	.	0.454960	0.20337	N	0.094312	T	0.14141	0.0342	L	0.27053	0.805	0.22240	N	0.999268	B	0.16802	0.019	B	0.08055	0.003	T	0.18587	-1.0332	10	0.48119	T	0.1	-2.7884	9.1495	0.36953	0.0:0.7459:0.1214:0.1327	.	884	Q9H4A3	WNK1_HUMAN	V	884;1382;477;154	ENSP00000313059:A884V;ENSP00000433548:A1382V;ENSP00000341292:A477V;ENSP00000439552:A154V	ENSP00000313059:A884V	A	+	2	0	WNK1	859277	0.727000	0.28069	0.012000	0.15200	0.845000	0.48019	1.984000	0.40658	0.333000	0.23563	-0.259000	0.10710	GCG		0.547	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		25	95	0	0	0	0	25	95				
FKBP4	2288	broad.mit.edu	37	12	2909727	2909727	+	Missense_Mutation	SNP	T	T	C	rs539277079		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:2909727T>C	ENST00000001008.4	+	8	1203	c.1016T>C	c.(1015-1017)aTt>aCt	p.I339T	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	339	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			TCTGCTGCCATTGAAAGCTGT	0.532													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19914	0.0		0.0	False		,,,				2504	0.0					uc001qkz.2		NA																	0					0						c.(1015-1017)ATT>ACT		FK506 binding protein 52	Dimethyl sulfoxide(DB01093)						41.0	37.0	38.0					12																	2909727		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2909727T>C	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1016T>C	12.37:g.2909727T>C	ENSP00000001008:p.Ile339Thr						p.I339T	NM_002014	NP_002005	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		8	1214	+			339			TPR 2.|Interaction with tubulin (By similarity).		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1016T>C	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104348	0.37145	.	.	ENSG00000004478	ENST00000001008	T	0.66638	-0.22	5.06	5.06	0.68205	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.303104	0.32901	N	0.005502	T	0.73055	0.3538	M	0.68593	2.085	0.50313	D	0.999863	B	0.30727	0.292	P	0.45310	0.476	T	0.69499	-0.5129	10	0.24483	T	0.36	-3.0746	14.3166	0.66454	0.0:0.0:0.0:1.0	.	339	Q02790	FKBP4_HUMAN	T	339	ENSP00000001008:I339T	ENSP00000001008:I339T	I	+	2	0	FKBP4	2779988	0.979000	0.34478	0.238000	0.24106	0.717000	0.41224	5.856000	0.69518	2.046000	0.60703	0.459000	0.35465	ATT		0.532	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			9	39	0	0	0	0	9	39				
AICDA	57379	broad.mit.edu	37	12	8757515	8757515	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:8757515T>A	ENST00000229335.6	-	4	534	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	AICDA_ENST00000537228.1_Intron	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	144					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCAGTAAAAATAATCTTCAAA	0.428																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2		NA																	0				ovary(1)|pancreas(1)	2						c.(430-432)TAT>TTT		activation-induced cytidine deaminase							42.0	40.0	40.0					12																	8757515		1791	4059	5850	SO:0001583	missense	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757515T>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.431A>T	12.37:g.8757515T>A	ENSP00000229335:p.Tyr144Phe					AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	p.Y144F	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			4	510	-	Lung SC(5;0.184)		144					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.431A>T	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.444|1.444	-0.566734|-0.566734	0.03910|0.03910	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000545512|ENST00000229335	.|T	.|0.62788	.|-0.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.|0.367274	.|0.31566	.|N	.|0.007423	T|T	0.28366|0.28366	0.0701|0.0701	N|N	0.02721|0.02721	-0.515|-0.515	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.34304|0.34304	-0.9834|-0.9834	5|10	.|0.02654	.|T	.|1	-14.7489|-14.7489	5.0339|5.0339	0.14424|0.14424	0.1615:0.0849:0.0:0.7537|0.1615:0.0849:0.0:0.7537	.|.	.|144	.|Q9GZX7	.|AICDA_HUMAN	F|F	143|144	.|ENSP00000229335:Y144F	.|ENSP00000229335:Y144F	I|Y	-|-	1|2	0|0	AICDA|AICDA	8648782|8648782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	1.801000|1.801000	0.38843|0.38843	2.059000|2.059000	0.61396|0.61396	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.428	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		10	29	0	0	0	0	10	29				
PDE3A	5139	broad.mit.edu	37	12	20801805	20801805	+	Missense_Mutation	SNP	G	G	A	rs148455779		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:20801805G>A	ENST00000359062.3	+	13	2789	c.2749G>A	c.(2749-2751)Gta>Ata	p.V917I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	917	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTTTGACTTCGTAGCCAAATT	0.363																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2749-2751)GTA>ATA		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	G	ILE/VAL	0,4406		0,0,2203	89.0	83.0	85.0		2749	4.3	0.9	12	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDE3A	NM_000921.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	917/1142	20801805	1,13005	2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801805G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2749G>A	12.37:g.20801805G>A	ENSP00000351957:p.Val917Ile						p.V917I	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			13	2771	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	917			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2749G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857884	0.51376	0.0	1.16E-4	ENSG00000172572	ENST00000359062	T	0.75589	-0.95	5.23	4.34	0.51931	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.066893	0.64402	D	0.000010	T	0.61286	0.2335	N	0.02973	-0.45	0.41375	D	0.987514	D	0.64830	0.994	P	0.56042	0.79	T	0.66101	-0.6007	10	0.44086	T	0.13	.	9.056	0.36405	0.0746:0.0:0.7794:0.146	.	917	Q14432	PDE3A_HUMAN	I	917	ENSP00000351957:V917I	ENSP00000351957:V917I	V	+	1	0	PDE3A	20693072	1.000000	0.71417	0.863000	0.33907	0.665000	0.39181	3.731000	0.55013	1.338000	0.45544	0.557000	0.71058	GTA		0.363	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			18	60	0	0	0	0	18	60				
ESPL1	9700	broad.mit.edu	37	12	53680134	53680134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:53680134C>T	ENST00000257934.4	+	18	3705	c.3614C>T	c.(3613-3615)tCc>tTc	p.S1205F	ESPL1_ENST00000552462.1_Missense_Mutation_p.S1205F	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1205					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTCCAAGCTTCCCTGAATCAT	0.587																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(3613-3615)TCC>TTC		separase							78.0	87.0	84.0					12																	53680134		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53680134C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3614C>T	12.37:g.53680134C>T	ENSP00000257934:p.Ser1205Phe					ESPL1_uc001scj.2_Missense_Mutation_p.S880F|ESPL1_uc010soe.1_Intron	p.S1205F	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			18	3705	+			1205						Missense_Mutation	SNP	ENST00000257934.4	37	c.3614C>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923292	0.33908	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12361	2.69;2.69	5.65	4.76	0.60689	.	0.573775	0.19707	N	0.107918	T	0.16981	0.0408	M	0.70595	2.14	0.09310	N	0.999997	P	0.43633	0.813	B	0.38803	0.282	T	0.17715	-1.0360	10	0.54805	T	0.06	.	10.3409	0.43877	0.0:0.9128:0.0:0.0872	.	1205	Q14674	ESPL1_HUMAN	F	1205;880;1205	ENSP00000257934:S1205F;ENSP00000449831:S1205F	ENSP00000257934:S1205F	S	+	2	0	ESPL1	51966401	0.000000	0.05858	0.348000	0.25681	0.894000	0.52154	0.511000	0.22739	1.635000	0.50512	0.655000	0.94253	TCC		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		28	99	0	0	0	0	28	99				
LRP1	4035	broad.mit.edu	37	12	57571375	57571375	+	Splice_Site	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:57571375G>T	ENST00000243077.3	+	26	4827		c.e26+1			NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1						aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGACGCCAGGTCAGCACCCT	0.652																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.e26+1		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						30.0	26.0	27.0					12																	57571375		2203	4300	6503	SO:0001630	splice_region_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57571375G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4361+1G>T	12.37:g.57571375G>T							p.R1454_splice	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	26	4827	+								Q2PP12|Q86SW0|Q8IVG8	Splice_Site	SNP	ENST00000243077.3	37	c.4361_splice	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061147	0.55432	.	.	ENSG00000123384	ENST00000243077	.	.	.	5.04	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2226	0.54443	0.0833:0.0:0.9166:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRP1	55857642	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	9.648000	0.98483	1.355000	0.45865	0.462000	0.41574	.		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	Intron	9	19	1	0	2.74e-10	3.13e-10	9	19				
LRIG3	121227	broad.mit.edu	37	12	59272720	59272720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:59272720C>A	ENST00000320743.3	-	14	2255	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.E597*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	657	Ig-like C2-type 2.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACGTCATCCTCGGGCATCACA	0.552			T	ROS1	NSCLC																																	uc001sqr.2		NA		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(1969-1971)GAG>TAG		leucine-rich repeats and immunoglobulin-like							153.0	114.0	127.0					12																	59272720		2203	4300	6503	SO:0001587	stop_gained	121227					integral to membrane		g.chr12:59272720C>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1969G>T	12.37:g.59272720C>A	ENSP00000326759:p.Glu657*					LRIG3_uc009zqh.2_Nonsense_Mutation_p.E597*|LRIG3_uc010ssh.1_RNA	p.E657*	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		14	2215	-			657			Ig-like C2-type 2.		Q6UXL7|Q8NC72	Nonsense_Mutation	SNP	ENST00000320743.3	37	c.1969G>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	39	7.348904	0.98228	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	.	.	.	5.5	5.5	0.81552	.	0.000000	0.37530	N	0.002055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4067	0.94649	0.0:1.0:0.0:0.0	.	.	.	.	X	597;657	.	.	E	-	1	0	LRIG3	57558987	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	4.743000	0.62110	2.585000	0.87301	0.462000	0.41574	GAG		0.552	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		9	95	1	0	0.000274275	0.000290515	9	95				
PPFIA2	8499	broad.mit.edu	37	12	81762943	81762943	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:81762943G>A	ENST00000549396.1	-	12	1457	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C	PPFIA2_ENST00000549325.1_Missense_Mutation_p.R415C|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R334C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000541017.1_De_novo_Start_InFrame|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R433C|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_De_novo_Start_OutOfFrame|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R359C|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R433C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R415C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R280C	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	433	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCTCATACGTTCTTCAATA	0.318																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(1297-1299)CGT>TGT		PTPRF interacting protein alpha 2							106.0	98.0	100.0					12																	81762943		1821	4074	5895	SO:0001583	missense	8499							g.chr12:81762943G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1297C>T	12.37:g.81762943G>A	ENSP00000450337:p.Arg433Cys					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.R433C	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			12	1458	-			359					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1297C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371549	0.61624	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T	0.79352	1.18;1.18;1.18;-1.26;1.18;1.18;1.18;1.18	5.39	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.88603	0.6481	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90382	0.4389	10	0.87932	D	0	-10.5583	13.3829	0.60778	0.0:0.0:0.7139:0.2861	.	433	O75334	LIPA2_HUMAN	C	433;415;359;444;415;433;334;433;14	ENSP00000450337:R433C;ENSP00000450298:R415C;ENSP00000385093:R359C;ENSP00000327416:R415C;ENSP00000449338:R433C;ENSP00000388373:R334C;ENSP00000447868:R433C;ENSP00000448941:R14C	ENSP00000327416:R415C	R	-	1	0	PPFIA2	80287074	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.666000	0.61554	1.361000	0.45981	0.563000	0.77884	CGT		0.318	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			6	17	0	0	0	0	6	17				
XPO4	64328	broad.mit.edu	37	13	21375044	21375044	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr13:21375044C>A	ENST00000255305.6	-	14	1974	c.1903G>T	c.(1903-1905)Ggc>Tgc	p.G635C	XPO4_ENST00000400602.2_Missense_Mutation_p.G635C			Q9C0E2	XPO4_HUMAN	exportin 4	635					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ATATCTTTGCCCATCTGGGGA	0.393																																						uc001unq.3		NA																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1903-1905)GGC>TGC		exportin 4							155.0	143.0	147.0					13																	21375044		1820	4080	5900	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21375044C>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1903G>T	13.37:g.21375044C>A	ENSP00000255305:p.Gly635Cys						p.G635C	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	14	1939	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	635					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1903G>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920371	0.73098	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	L	0.47716	1.5	0.80722	D	1	B	0.27416	0.178	B	0.24269	0.052	T	0.61535	-0.7043	10	0.54805	T	0.06	-11.399	19.7319	0.96186	0.0:1.0:0.0:0.0	.	635	Q9C0E2	XPO4_HUMAN	C	635;505;635	ENSP00000383444:G635C;ENSP00000255305:G635C	ENSP00000255305:G635C	G	-	1	0	XPO4	20273044	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.400000	0.79949	2.668000	0.90789	0.655000	0.94253	GGC		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		35	142	1	0	4.32e-19	5e-19	35	142				
RXFP2	122042	broad.mit.edu	37	13	32339254	32339254	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr13:32339254A>C	ENST00000298386.2	+	4	471	c.400A>C	c.(400-402)Atg>Ctg	p.M134L	RXFP2_ENST00000380314.1_Missense_Mutation_p.M134L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	134					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTCTGTGCCGATGATTTCTAA	0.348																																						uc001utt.2		NA																	0					0						c.(400-402)ATG>CTG		relaxin/insulin-like family peptide receptor 2							170.0	157.0	161.0					13																	32339254		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32339254A>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.400A>C	13.37:g.32339254A>C	ENSP00000298386:p.Met134Leu					RXFP2_uc010aba.2_Missense_Mutation_p.M117L	p.M134L	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	4	471	+		Lung SC(185;0.0262)	134			Extracellular (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.400A>C	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	A	0.481	-0.880004	0.02530	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04015	4.4;3.73	6.06	-6.43	0.01926	Leucine-rich repeat-containing N-terminal (1);	2.606170	0.00956	N	0.003039	T	0.01627	0.0052	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43343	-0.9397	10	0.20046	T	0.44	.	0.7633	0.01011	0.193:0.2197:0.2994:0.2879	.	134;134	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	L	134	ENSP00000369670:M134L;ENSP00000298386:M134L	ENSP00000298386:M134L	M	+	1	0	RXFP2	31237254	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.418000	0.02462	-0.660000	0.05352	-0.274000	0.10170	ATG		0.348	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		6	73	0	0	0	0	6	73				
MDGA2	161357	broad.mit.edu	37	14	47530570	47530570	+	Silent	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:47530570T>C	ENST00000399232.2	-	7	1564	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	MDGA2_ENST00000357362.3_Silent_p.T171T|MDGA2_ENST00000426342.1_Silent_p.T171T|MDGA2_ENST00000439988.3_Silent_p.T469T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	400	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCCAAGTTTGTTGTTCCCG	0.403																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1198-1200)ACA>ACG		MAM domain containing 1 isoform 1							164.0	148.0	153.0					14																	47530570		1896	4106	6002	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530570T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1200A>G	14.37:g.47530570T>C						MDGA2_uc001wwi.3_Silent_p.T171T|MDGA2_uc010ani.2_5'UTR	p.T400T	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1396	-			400			Ig-like 4.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1200A>G		.	.	.	.	.	.	.	.	.	.	T	9.142	1.014201	0.19277	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.64	-1.44	0.08856	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40117	-0.9580	4	.	.	.	.	6.9385	0.24481	0.1121:0.0694:0.574:0.2446	.	.	.	.	E	175	.	.	K	-	1	0	MDGA2	46600320	0.997000	0.39634	0.926000	0.36857	0.960000	0.62799	0.331000	0.19733	-0.491000	0.06697	0.533000	0.62120	AAA		0.403	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		8	182	0	0	0	0	8	182				
PLEKHH1	57475	broad.mit.edu	37	14	68050595	68050596	+	Silent	DNP	GC	GC	AT			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:68050595_68050596GC>AT	ENST00000329153.5	+	25	3696_3697	c.3564_3565GC>AT	c.(3562-3567)caGCtg>caATtg	p.1188_1189QL>QL	PLEKHH1_ENST00000417684.2_Silent_p.53_54QL>QL	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1188	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGCTGAACAGCTGAGGTAGGT	0.584											OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xjl.1		NA																	0					0						c.(3562-3567)CAGCTG>CAATTG		pleckstrin homology domain containing, family H																																				SO:0001819	synonymous_variant	57475					cytoskeleton	binding	g.chr14:68050595_68050596GC>AT	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		Exception_encountered	14.37:g.68050595_68050596delinsAT			OREG0022749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1104	PLEKHH1_uc010tsw.1_Silent_p.756_757QL>QL|PLEKHH1_uc001xjn.1_Silent_p.703_704QL>QL|PLEKHH1_uc010tsx.1_Silent_p.53_54QL>QL|PLEKHH1_uc001xjo.1_Silent_p.53_54QL>QL|PLEKHH1_uc001xjp.1_Silent_p.53_54QL>QL	p.1188_1189QL>QL	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	25	3706_3707	+			1188_1189			FERM.		A6H8X6|Q6PJL4|Q6ZWC7	Silent	DNP	ENST00000329153.5	37	c.3564_3565GC>AT	CCDS45128.1																																																																																				0.584	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		9	29	0	0	0	0	9	29				
ZFP36L1	677	broad.mit.edu	37	14	69257020	69257020	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:69257020C>G	ENST00000439696.2	-	2	548	c.247G>C	c.(247-249)Gac>Cac	p.D83H	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.D83H|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	83					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGCGGCTGTCTCGCGAGCTC	0.682											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NA																	0				ovary(1)	1						c.(247-249)GAC>CAC		butyrate response factor 1							19.0	22.0	21.0					14																	69257020		2200	4292	6492	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69257020C>G	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.247G>C	14.37:g.69257020C>G	ENSP00000388402:p.Asp83His		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.D83H	p.D83H	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	377	-			83					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.247G>C	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	c	15.09	2.731549	0.48939	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022;ENST00000553375	T;T	0.31247	1.5;1.5	4.58	4.58	0.56647	Tis11B-like protein, N-terminal (1);	0.125059	0.52532	D	0.000062	T	0.29914	0.0748	N	0.08118	0	0.80722	D	1	P	0.42123	0.771	P	0.51701	0.677	T	0.37776	-0.9691	10	0.66056	D	0.02	-0.175	17.1896	0.86875	0.0:1.0:0.0:0.0	.	83	Q07352	TISB_HUMAN	H	83;83;83;89;61;152	ENSP00000388402:D83H;ENSP00000337386:D83H	ENSP00000337386:D83H	D	-	1	0	ZFP36L1	68326773	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	4.277000	0.58939	2.372000	0.80975	0.580000	0.79431	GAC		0.682	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			13	31	0	0	0	0	13	31				
PTPN21	11099	broad.mit.edu	37	14	88934592	88934592	+	Missense_Mutation	SNP	T	T	G	rs151002751	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:88934592T>G	ENST00000556564.1	-	19	3698	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	PTPN21_ENST00000328736.3_Missense_Mutation_p.R1138S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1138	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTCCAGCACTCTCGGGATGT	0.512													T|||	21	0.00419329	0.0008	0.0043	5008	,	,		19494	0.001		0.002	False		,,,				2504	0.0143					uc001xwv.3		NA																	0				ovary(3)|skin(1)	4						c.(3412-3414)AGA>AGC		protein tyrosine phosphatase, non-receptor type		T	SER/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	129.0	130.0		3414	2.6	0.8	14	dbSNP_134	130	21,8579	15.3+/-51.7	0,21,4279	yes	missense	PTPN21	NM_007039.3	110	0,23,6480	GG,GT,TT		0.2442,0.0454,0.1768	benign	1138/1175	88934592	23,12983	2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88934592T>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3414A>C	14.37:g.88934592T>G	ENSP00000452414:p.Arg1138Ser					PTPN21_uc010twc.1_Missense_Mutation_p.R934S	p.R1138S	NM_007039	NP_008970	Q16825	PTN21_HUMAN			19	3745	-			1138			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000556564.1	37	c.3414A>C	CCDS9884.1	6|6	0.0027472527472527475|0.0027472527472527475	0|0	0.0|0.0	3|3	0.008287292817679558|0.008287292817679558	1|1	0.0017482517482517483|0.0017482517482517483	2|2	0.002638522427440633|0.002638522427440633	T|T	12.51|12.51	1.960511|1.960511	0.34565|0.34565	4.54E-4|4.54E-4	0.002442|0.002442	ENSG00000070778|ENSG00000070778	ENST00000328736;ENST00000556564|ENST00000553531	T;T|.	0.12774|.	2.65;2.65|.	6.05|6.05	2.56|2.56	0.30785|0.30785	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.169817|.	0.48767|.	D|.	0.000172|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.10618|0.10618	0.0049999999999999|0.0049999999999999	0.32411|0.32411	N|N	0.550628|0.550628	B|.	0.31351|.	0.32|.	B|.	0.31390|.	0.129|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.34782|.	T|.	0.22|.	.|.	4.3864|4.3864	0.11319|0.11319	0.0:0.1952:0.1698:0.635|0.0:0.1952:0.1698:0.635	.|.	1138|.	Q16825|.	PTN21_HUMAN|.	S|R	1138|76	ENSP00000330276:R1138S;ENSP00000452414:R1138S|.	ENSP00000330276:R1138S|.	R|S	-|-	3|1	2|0	PTPN21|PTPN21	88004345|88004345	0.969000|0.969000	0.33509|0.33509	0.808000|0.808000	0.32385|0.32385	0.380000|0.380000	0.30137|0.30137	0.671000|0.671000	0.25172|0.25172	0.656000|0.656000	0.30886|0.30886	0.533000|0.533000	0.62120|0.62120	AGA|AGT		0.512	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	133	0	0	0	0	5	133				
ADSSL1	122622	broad.mit.edu	37	14	105201381	105201381	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:105201381G>T	ENST00000330877.2	+	2	302	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	ADSSL1_ENST00000332972.5_Missense_Mutation_p.V116L	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CGGCCACACGGTGGTGGTGGA	0.627																																						uc001ypd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(217-219)GTG>TTG		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						65.0	53.0	57.0					14																	105201381		2202	4300	6502	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105201381G>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.217G>T	14.37:g.105201381G>T	ENSP00000331260:p.Val73Leu					INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.V116L|ADSSL1_uc001ypf.2_RNA	p.V73L	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	2	291	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	73						Missense_Mutation	SNP	ENST00000330877.2	37	c.217G>T	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248423	0.80024	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.54866	0.55;0.55	3.72	3.72	0.42706	.	0.144183	0.46145	D	0.000304	T	0.54255	0.1847	L	0.59967	1.855	0.80722	D	1	B;B	0.33748	0.423;0.243	B;B	0.38712	0.28;0.277	T	0.63743	-0.6568	10	0.87932	D	0	-24.1916	15.6745	0.77303	0.0:0.0:1.0:0.0	.	116;73	Q8N142-2;Q8N142	.;PURA1_HUMAN	L	73;116	ENSP00000331260:V73L;ENSP00000333019:V116L	ENSP00000331260:V73L	V	+	1	0	ADSSL1	104272426	1.000000	0.71417	0.677000	0.29947	0.661000	0.39034	9.447000	0.97595	1.914000	0.55421	0.561000	0.74099	GTG		0.627	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			4	21	1	0	0.00909568	0.00935722	4	21				
DUOX1	53905	broad.mit.edu	37	15	45428812	45428812	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:45428812C>T	ENST00000321429.4	+	10	1418	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	DUOX1_ENST00000389037.3_Silent_p.G337G|DUOX1_ENST00000561166.1_5'Flank	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	337	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCCCCCTGGCGTCTACATGA	0.592																																						uc001zus.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(1009-1011)GGC>GGT		dual oxidase 1 precursor							65.0	63.0	63.0					15																	45428812		2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45428812C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1011C>T	15.37:g.45428812C>T						DUOX1_uc001zut.1_Silent_p.G337G|DUOX1_uc010bee.1_5'UTR	p.G337G	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	10	1357	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	337			Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.1011C>T	CCDS32221.1																																																																																				0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	52	0	0	0	0	11	52				
TRPM7	54822	broad.mit.edu	37	15	50867173	50867173	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:50867173G>A	ENST00000313478.7	-	34	5176	c.4895C>T	c.(4894-4896)aCc>aTc	p.T1632I	TRPM7_ENST00000560955.1_Missense_Mutation_p.T1631I|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1632	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTCTGACCAGGTACACTGTAC	0.388																																						uc001zyt.3		NA																	0				ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(4894-4896)ACC>ATC		transient receptor potential cation channel,							192.0	181.0	184.0					15																	50867173		1880	4110	5990	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50867173G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4895C>T	15.37:g.50867173G>A	ENSP00000320239:p.Thr1632Ile					TRPM7_uc001zyr.2_Missense_Mutation_p.T69I	p.T1632I	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	34	5159	-			1632			Cytoplasmic (Potential).|Alpha-type protein kinase.		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.4895C>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586030	0.86748	.	.	ENSG00000092439	ENST00000313478	T	0.06768	3.26	5.18	5.18	0.71444	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.050665	0.85682	D	0.000000	T	0.26919	0.0659	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00333	-1.1810	10	0.87932	D	0	-4.5868	18.8942	0.92417	0.0:0.0:1.0:0.0	.	1632	Q96QT4	TRPM7_HUMAN	I	1632	ENSP00000320239:T1632I	ENSP00000320239:T1632I	T	-	2	0	TRPM7	48654465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.691000	0.91804	0.650000	0.86243	ACC		0.388	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		33	115	0	0	0	0	33	115				
CYP1A2	1544	broad.mit.edu	37	15	75042710	75042710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr15:75042710G>A	ENST00000343932.4	+	2	694	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	211					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GCACTTCCCTGAGAGTAGCGA	0.577																																						uc002ayr.1		NA																	0				ovary(3)|breast(1)	4						c.(631-633)GAG>AAG		cytochrome P450, family 1, subfamily A,	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						287.0	235.0	252.0					15																	75042710		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042710G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.631G>A	15.37:g.75042710G>A	ENSP00000342007:p.Glu211Lys						p.E211K	NM_000761	NP_000752	P05177	CP1A2_HUMAN			2	695	+			211					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.631G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223976	0.22457	.	.	ENSG00000140505	ENST00000343932	T	0.68624	-0.34	4.6	0.232	0.15381	.	0.403632	0.31051	N	0.008348	T	0.47728	0.1461	N	0.17631	0.505	0.20307	N	0.999914	B	0.16603	0.018	B	0.17098	0.017	T	0.44174	-0.9345	10	0.87932	D	0	.	9.6243	0.39741	0.2533:0.4835:0.2632:0.0	.	211	P05177-2	.	K	211	ENSP00000342007:E211K	ENSP00000342007:E211K	E	+	1	0	CYP1A2	72829763	0.970000	0.33590	0.002000	0.10522	0.003000	0.03518	2.437000	0.44828	-0.104000	0.12154	-0.311000	0.09066	GAG		0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		26	173	0	0	0	0	26	173				
PDXDC1	23042	broad.mit.edu	37	16	15110041	15110041	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:15110041G>C	ENST00000396410.4	+	9	880	c.783G>C	c.(781-783)gaG>gaC	p.E261D	PDXDC1_ENST00000450288.2_Missense_Mutation_p.E233D|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E279D|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E246D|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E170D|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E234D|RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E238D|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E261D	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	261					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACTCTGTGAGCAGTATGGCA	0.502																																						uc002dda.3		NA																	0				skin(1)	1						c.(781-783)GAG>GAC		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						77.0	73.0	74.0					16																	15110041		2197	4297	6494	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15110041G>C	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.783G>C	16.37:g.15110041G>C	ENSP00000379691:p.Glu261Asp					PDXDC1_uc010uzl.1_Missense_Mutation_p.E246D|PDXDC1_uc010uzm.1_Missense_Mutation_p.E170D|PDXDC1_uc002dcz.2_Missense_Mutation_p.E238D|PDXDC1_uc002ddb.3_Missense_Mutation_p.E234D|PDXDC1_uc010uzn.1_Missense_Mutation_p.E233D|PDXDC1_uc002ddc.2_Missense_Mutation_p.E261D	p.E261D	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			9	1007	+			261					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.783G>C	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490877	0.26774	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.21	0.958	0.19619	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.234690	0.44285	D	0.000470	T	0.14270	0.0345	N	0.08118	0	0.37083	D	0.899069	B;B;B;B;B;B	0.13594	0.003;0.008;0.003;0.003;0.003;0.001	B;B;B;B;B;B	0.14023	0.01;0.01;0.01;0.01;0.01;0.003	T	0.13045	-1.0524	10	0.17832	T	0.49	-9.1896	5.0458	0.14483	0.3276:0.1399:0.5325:0.0	.	233;170;261;233;261;238	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	D	246;170;261;261;233;238	ENSP00000322807:E246D;ENSP00000400310:E170D;ENSP00000437835:E261D;ENSP00000379691:E261D;ENSP00000391147:E233D;ENSP00000406703:E238D	ENSP00000322807:E246D	E	+	3	2	PDXDC1	15017542	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	0.772000	0.26647	-0.038000	0.13624	-0.321000	0.08615	GAG		0.502	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		8	55	0	0	0	0	8	55				
HPR	3250	broad.mit.edu	37	16	72110502	72110502	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:72110502G>A	ENST00000540303.2	+	5	601	c.569G>A	c.(568-570)gGg>gAg	p.G190E	HPR_ENST00000228226.8_Missense_Mutation_p.G227E|HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.G190E	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	190	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GTAGATATTGGGCTCATCAAA	0.448																																						uc002fby.2		NA																	0				central_nervous_system(1)	1						c.(568-570)GGG>GAG		haptoglobin-related protein precursor							160.0	108.0	125.0					16																	72110502		1948	4136	6084	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110502G>A	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.569G>A	16.37:g.72110502G>A	ENSP00000441828:p.Gly190Glu					TXNL4B_uc010cgl.2_Intron	p.G190E	NM_020995	NP_066275	P00739	HPTR_HUMAN			5	599	+		Ovarian(137;0.125)	190			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.569G>A	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.096629	0.36952	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.93547	-3.24;-3.24;-3.24	2.46	2.46	0.29980	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.066847	0.64402	D	0.000012	D	0.96185	0.8756	M	0.88640	2.97	0.35893	D	0.829782	D	0.69078	0.997	D	0.70935	0.971	D	0.96950	0.9694	10	0.87932	D	0	.	8.541	0.33393	0.0:0.2404:0.7596:0.0	.	190	P00739	HPTR_HUMAN	E	190;190;227	ENSP00000349451:G190E;ENSP00000441828:G190E;ENSP00000228226:G227E	ENSP00000228226:G227E	G	+	2	0	HP	70668003	1.000000	0.71417	0.991000	0.47740	0.539000	0.34962	1.465000	0.35299	1.381000	0.46364	0.194000	0.17425	GGG		0.448	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		15	75	0	0	0	0	15	75				
KCNG4	93107	broad.mit.edu	37	16	84270496	84270496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr16:84270496C>T	ENST00000308251.4	-	2	664	c.596G>A	c.(595-597)cGc>cAc	p.R199H	KCNG4_ENST00000568181.1_Missense_Mutation_p.R199H	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	199					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)	p.R199H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGCCCCAGCGCGAGGAGTG	0.677																																						uc010voc.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(595-597)CGC>CAC		potassium voltage-gated channel, subfamily G,							24.0	26.0	25.0					16																	84270496		2198	4296	6494	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270496C>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.596G>A	16.37:g.84270496C>T	ENSP00000312129:p.Arg199His					KCNG4_uc002fhu.1_Missense_Mutation_p.R199H	p.R199H	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	717	-			199					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.596G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626564	0.46840	.	.	ENSG00000168418	ENST00000308251	D	0.96885	-4.16	5.11	5.11	0.69529	.	1.589340	0.03265	N	0.183811	D	0.98102	0.9374	M	0.86268	2.805	0.23192	N	0.998146	B;D	0.89917	0.347;1.0	B;D	0.63113	0.037;0.911	D	0.88217	0.2894	10	0.41790	T	0.15	.	9.458	0.38767	0.0:0.8371:0.0:0.1629	.	199;199	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	H	199	ENSP00000312129:R199H	ENSP00000312129:R199H	R	-	2	0	KCNG4	82827997	0.998000	0.40836	0.982000	0.44146	0.777000	0.43975	1.183000	0.32041	2.364000	0.80123	0.549000	0.68633	CGC		0.677	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		15	36	0	0	0	0	15	36				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		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.chr17:7578212G>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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	24	0	0	0	0	26	24				
MYH3	4621	broad.mit.edu	37	17	10542363	10542363	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:10542363C>G	ENST00000583535.1	-	25	3333	c.3246G>C	c.(3244-3246)aaG>aaC	p.K1082N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1082N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1082					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.K1082N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGGCATACTTCTTGAGCCTTT	0.398																																						uc002gmq.1		NA																	1	Substitution - Missense(1)	p.K1082N(1)	pancreas(1)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3244-3246)AAG>AAC		myosin, heavy chain 3, skeletal muscle,							147.0	130.0	136.0					17																	10542363		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10542363C>G		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3246G>C	17.37:g.10542363C>G	ENSP00000464317:p.Lys1082Asn						p.K1082N	NM_002470	NP_002461	P11055	MYH3_HUMAN			24	3323	-			1082			Potential.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.3246G>C	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730358	0.48939	.	.	ENSG00000109063	ENST00000226209	T	0.78924	-1.22	5.64	3.65	0.41850	Myosin tail (1);	.	.	.	.	D	0.89241	0.6659	H	0.94306	3.52	0.35424	D	0.793489	D	0.53745	0.962	D	0.65010	0.931	D	0.91926	0.5551	9	0.87932	D	0	.	8.9508	0.35788	0.0:0.7179:0.0:0.2821	.	1082	P11055	MYH3_HUMAN	N	1082	ENSP00000226209:K1082N	ENSP00000226209:K1082N	K	-	3	2	MYH3	10483088	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	0.446000	0.21694	0.851000	0.35264	0.650000	0.86243	AAG		0.398	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		22	71	0	0	0	0	22	71				
KRT14	3861	broad.mit.edu	37	17	39740142	39740142	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:39740142C>G	ENST00000167586.6	-	4	883	c.797G>C	c.(796-798)gGa>gCa	p.G266A		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	266	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ATTGACATCTCCACCCACCTG	0.577																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(796-798)GGA>GCA		keratin 14							115.0	97.0	103.0					17																	39740142		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740142C>G	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.797G>C	17.37:g.39740142C>G	ENSP00000167586:p.Gly266Ala					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.G266A	p.G266A	NM_000526	NP_000517	P02533	K1C14_HUMAN			4	858	-		Breast(137;0.000307)	266			Rod.|Linker 12.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.797G>C	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878402	0.91740	.	.	ENSG00000186847	ENST00000167586	D	0.88818	-2.43	5.31	5.31	0.75309	Prefoldin (1);Filament (1);	0.000000	0.52532	D	0.000069	D	0.94251	0.8154	M	0.81682	2.555	0.58432	D	0.999999	D	0.59357	0.985	D	0.67382	0.951	D	0.94492	0.7702	10	0.62326	D	0.03	.	16.8282	0.85937	0.0:1.0:0.0:0.0	.	266	P02533	K1C14_HUMAN	A	266	ENSP00000167586:G266A	ENSP00000167586:G266A	G	-	2	0	KRT14	36993668	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	3.879000	0.56138	2.637000	0.89404	0.655000	0.94253	GGA		0.577	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		9	108	0	0	0	0	9	108				
SPOP	8405	broad.mit.edu	37	17	47679366	47679366	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:47679366C>A	ENST00000393328.2	-	10	1206	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	SPOP_ENST00000393331.3_Missense_Mutation_p.A281S|SPOP_ENST00000503676.1_Missense_Mutation_p.A281S|SPOP_ENST00000347630.2_Missense_Mutation_p.A281S|SPOP_ENST00000504102.1_Missense_Mutation_p.A281S	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	281	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CGCTCCAGGGCATACTGTAAA	0.493										Prostate(2;0.17)																												uc010dbk.2		NA																	0				prostate(2)|ovary(2)|lung(2)	6						c.(841-843)GCC>TCC		speckle-type POZ protein							105.0	94.0	97.0					17																	47679366		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47679366C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.841G>T	17.37:g.47679366C>A	ENSP00000377001:p.Ala281Ser	Prostate(2;0.17)				SPOP_uc002ipb.2_Missense_Mutation_p.A281S|SPOP_uc002ipc.2_Missense_Mutation_p.A281S|SPOP_uc002ipd.2_Missense_Mutation_p.A281S|SPOP_uc002ipe.2_Missense_Mutation_p.A281S|SPOP_uc002ipf.2_Missense_Mutation_p.A281S|SPOP_uc002ipg.2_Missense_Mutation_p.A281S	p.A281S	NM_003563	NP_003554	O43791	SPOP_HUMAN			10	1473	-			281			BTB.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.841G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917274	0.92249	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.1	5.1	0.69264	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	L	0.50333	1.59	0.80722	D	1	B	0.34399	0.452	P	0.47118	0.538	T	0.61337	-0.7083	10	0.10111	T	0.7	-6.6747	18.6605	0.91470	0.0:1.0:0.0:0.0	.	281	O43791	SPOP_HUMAN	S	281;281;281;281;165;281;234	ENSP00000377001:A281S;ENSP00000377004:A281S;ENSP00000240327:A281S;ENSP00000425905:A281S;ENSP00000420908:A281S	ENSP00000240327:A281S	A	-	1	0	SPOP	45034365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.514000	0.81750	2.818000	0.97014	0.591000	0.81541	GCC		0.493	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		42	45	1	0	6.49e-15	7.46e-15	42	45				
SGCA	6442	broad.mit.edu	37	17	48245850	48245850	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr17:48245850C>T	ENST00000262018.3	+	5	537	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SGCA_ENST00000513942.1_3'UTR|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000344627.6_Silent_p.P167P|SGCA_ENST00000451235.2_Silent_p.P65P|SGCA_ENST00000543315.1_Silent_p.P167P	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	167					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						TCTGGGAGCCCGGAGAGCTTC	0.642																																						uc002iqi.2		NA																	0				ovary(2)	2						c.(499-501)CCC>CCT		sarcoglycan, alpha isoform 1 precursor							20.0	21.0	21.0					17																	48245850		2203	4296	6499	SO:0001819	synonymous_variant	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245850C>T	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.501C>T	17.37:g.48245850C>T						SGCA_uc010wmh.1_Silent_p.P65P|SGCA_uc002iqj.2_Silent_p.P167P|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	p.P167P	NM_000023	NP_000014	Q16586	SGCA_HUMAN			5	537	+			167			Extracellular (Potential).		A6NEB8|A8K3K7|Q13710|Q13712	Silent	SNP	ENST00000262018.3	37	c.501C>T	CCDS32679.1																																																																																				0.642	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		5	1	0	0	0	0	5	1				
GNAL	2774	broad.mit.edu	37	18	11872355	11872355	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr18:11872355G>C	ENST00000423027.3	+	10	1210	c.889G>C	c.(889-891)Gac>Cac	p.D297H	GNAL_ENST00000535121.1_Missense_Mutation_p.D297H|GNAL_ENST00000334049.6_Missense_Mutation_p.D374H|GNAL_ENST00000602628.1_Missense_Mutation_p.D90H|GNAL_ENST00000269162.5_Missense_Mutation_p.D297H			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	297					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAAAATTGAAGACTATTTCCC	0.333																																						uc010dkz.2		NA																	0				ovary(1)	1						c.(889-891)GAC>CAC		guanine nucleotide binding protein (G protein),							96.0	101.0	100.0					18																	11872355		2203	4298	6501	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11872355G>C	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.889G>C	18.37:g.11872355G>C	ENSP00000408489:p.Asp297His					GNAL_uc002kqc.2_Missense_Mutation_p.D374H|GNAL_uc002kqd.2_Missense_Mutation_p.D297H|GNAL_uc010wzt.1_Missense_Mutation_p.D90H	p.D297H	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			11	1135	+			297					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.889G>C	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848761	0.51164	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.94268	0.8159	M	0.75777	2.31	0.80722	D	1	D;P	0.76494	0.999;0.565	D;B	0.74674	0.984;0.417	D	0.93702	0.7016	10	0.49607	T	0.09	.	19.5608	0.95371	0.0:0.0:1.0:0.0	.	297;374	P38405;Q86XU3	GNAL_HUMAN;.	H	236;374;297;297;297;90	ENSP00000334051:D374H;ENSP00000439023:D297H;ENSP00000269162:D297H;ENSP00000408489:D297H	ENSP00000269162:D297H	D	+	1	0	GNAL	11862355	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.698000	0.92095	0.561000	0.74099	GAC		0.333	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		24	71	0	0	0	0	24	71				
TRAPPC5	126003	broad.mit.edu	37	19	7747352	7747352	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:7747352G>A	ENST00000317378.5	+	2	400	c.213G>A	c.(211-213)gcG>gcA	p.A71A	TRAPPC5_ENST00000426877.2_Silent_p.A71A|TRAPPC5_ENST00000596148.1_Silent_p.A71A|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.R130H|TRAPPC5_ENST00000595985.1_Intron	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	71					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						CGCTGGTGGCGCGCGAAAAGG	0.711																																						uc002mhi.1		NA																	0					0						c.(211-213)GCG>GCA		trafficking protein particle complex 5							17.0	20.0	19.0					19																	7747352		2108	4199	6307	SO:0001819	synonymous_variant	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747352G>A	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.213G>A	19.37:g.7747352G>A						TRAPPC5_uc002mhj.1_Silent_p.A71A|TRAPPC5_uc002mhk.1_Silent_p.A71A	p.A71A	NM_001042462	NP_001035927	Q8IUR0	TPPC5_HUMAN			2	283	+			71					A8K7I6	Silent	SNP	ENST00000317378.5	37	c.213G>A	CCDS42490.1																																																																																				0.711	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		10	27	0	0	0	0	10	27				
PLPPR2	64748	broad.mit.edu	37	19	11470246	11470246	+	Silent	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:11470246C>G	ENST00000251473.5	+	4	481	c.105C>G	c.(103-105)cgC>cgG	p.R35R	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TTGCTTACCGCCTGGAGTTCA	0.622																																						uc002mre.1		NA																	0				large_intestine(1)	1						c.(103-105)CGC>CGG		lipid phosphate phosphatase-related protein type							124.0	92.0	103.0					19																	11470246		2203	4300	6503	SO:0001819	synonymous_variant	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11470246C>G																												ENST00000251473.5:c.105C>G	19.37:g.11470246C>G						LPPR2_uc002mrf.1_Intron|LPPR2_uc010dxy.1_5'Flank	p.R35R	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			4	442	+			35						Silent	SNP	ENST00000251473.5	37	c.105C>G	CCDS12258.1																																																																																				0.622	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			9	49	0	0	0	0	9	49				
OR10H1	26539	broad.mit.edu	37	19	15918404	15918404	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:15918404G>A	ENST00000334920.2	-	1	532	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CACCAGCCCAGGAGCAGCCCA	0.632																																						uc002nbq.2		NA																	0					0						c.(442-444)TCC>TCT		olfactory receptor, family 10, subfamily H,							89.0	73.0	78.0					19																	15918404		2203	4300	6503	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918404G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.444C>T	19.37:g.15918404G>A							p.S148S	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	533	-			148			Helical; Name=4; (Potential).		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.444C>T	CCDS12335.1																																																																																				0.632	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			4	82	0	0	0	0	4	82				
SIN3B	23309	broad.mit.edu	37	19	16974605	16974605	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:16974605G>A	ENST00000248054.5	+	10	1402	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	SIN3B_ENST00000595541.1_Missense_Mutation_p.E51K|SIN3B_ENST00000379803.1_Missense_Mutation_p.E493K					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGAGCGCTTCGAGGTGTGTGT	0.612																																						uc002ney.1		NA																	0				ovary(2)	2						c.(1477-1479)GAG>AAG		SIN3 homolog B, transcription regulator							93.0	70.0	77.0					19																	16974605		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16974605G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1381G>A	19.37:g.16974605G>A	ENSP00000248054:p.Glu461Lys					SIN3B_uc002nez.1_Missense_Mutation_p.E461K|SIN3B_uc010xpi.1_Missense_Mutation_p.E51K	p.E493K	NM_015260	NP_056075	O75182	SIN3B_HUMAN			11	1491	+			493			Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000248054.5	37	c.1477G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.237468	0.95240	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.65732	0.09;-0.17	4.63	4.63	0.57726	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.997	D	0.90553	0.4510	10	0.87932	D	0	-14.0249	17.4615	0.87621	0.0:0.0:1.0:0.0	.	51;461;493	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	K	493;461	ENSP00000369131:E493K;ENSP00000248054:E461K	ENSP00000248054:E461K	E	+	1	0	SIN3B	16835605	1.000000	0.71417	0.966000	0.40874	0.806000	0.45545	9.611000	0.98342	2.114000	0.64651	0.561000	0.74099	GAG		0.612	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		12	41	0	0	0	0	12	41				
ZNF100	163227	broad.mit.edu	37	19	21909496	21909496	+	Missense_Mutation	SNP	G	G	C	rs188037372		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:21909496G>C	ENST00000358296.6	-	5	1816	c.1618C>G	c.(1618-1620)Cta>Gta	p.L540V	ZNF100_ENST00000305570.6_Missense_Mutation_p.L476V	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	540					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CACATTTGTAGGGTTTCTCTC	0.363													N|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.0		0.001	False		,,,				2504	0.0					uc002nqi.2		NA																	0					0						c.(1618-1620)CTA>GTA		zinc finger protein 100		G	VAL/LEU	0,4240		0,0,2120	53.0	59.0	57.0		1618	-0.4	0.5	19		57	3,8477		0,3,4237	yes	missense	ZNF100	NM_173531.3	32	0,3,6357	CC,CG,GG		0.0354,0.0,0.0236	benign	540/543	21909496	3,12717	2120	4240	6360	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909496G>C	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1618C>G	19.37:g.21909496G>C	ENSP00000351042:p.Leu540Val					ZNF100_uc002nqh.2_Missense_Mutation_p.L476V	p.L540V	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1817	-			540					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1618C>G	CCDS42538.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	0.049	-1.255002	0.01457	0.0	3.54E-4	ENSG00000197020	ENST00000358296	T	0.05025	3.51	0.867	-0.406	0.12389	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.23336	N	0.997885	B;P	0.49447	0.02;0.924	B;P	0.46796	0.006;0.527	T	0.34502	-0.9826	9	0.66056	D	0.02	.	2.1241	0.03734	0.2455:0.0:0.2753:0.4792	.	540;594	Q8IYN0;Q4G131	ZN100_HUMAN;.	V	540	ENSP00000351042:L540V	ENSP00000351042:L540V	L	-	1	2	ZNF100	21701336	0.001000	0.12720	0.473000	0.27253	0.476000	0.33039	-1.119000	0.03276	0.284000	0.22305	0.289000	0.19496	CTA		0.363	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		3	44	0	0	0	0	3	44				
ZNF208	7757	broad.mit.edu	37	19	22157388	22157388	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:22157388A>G	ENST00000397126.4	-	4	596	c.448T>C	c.(448-450)Tat>Cat	p.Y150H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGCATATTTGCCACGT	0.328																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(448-450)TAT>CAT		zinc finger protein 208							133.0	130.0	131.0					19																	22157388		2050	4219	6269	SO:0001583	missense	7757							g.chr19:22157388A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.448T>C	19.37:g.22157388A>G	ENSP00000380315:p.Tyr150His					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.Y150H	NM_007153	NP_009084					4	597	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.448T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.349	-0.945808	0.02304	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.06768	3.26	1.44	-2.88	0.05682	.	.	.	.	.	T	0.15003	0.0362	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.16129	-1.0413	8	0.33940	T	0.23	.	2.691	0.05121	0.5358:0.2068:0.0:0.2573	.	150	O43345	ZN208_HUMAN	H	150	ENSP00000380315:Y150H	ENSP00000380315:Y150H	Y	-	1	0	ZNF208	21949228	0.003000	0.15002	0.002000	0.10522	0.043000	0.13939	0.290000	0.18975	-0.404000	0.07610	0.240000	0.17902	TAT		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		21	81	0	0	0	0	21	81				
MAG	4099	broad.mit.edu	37	19	35791165	35791165	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:35791165C>T	ENST00000392213.3	+	6	987	c.828C>T	c.(826-828)gaC>gaT	p.D276D	MAG_ENST00000537831.2_Silent_p.D251D|MAG_ENST00000361922.4_Silent_p.D276D	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	276	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGATGCGGGACGGGACAGTCC	0.687																																						uc002nyy.1		NA																	0				breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(826-828)GAC>GAT		myelin associated glycoprotein isoform a							18.0	20.0	19.0					19																	35791165		2203	4295	6498	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35791165C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.828C>T	19.37:g.35791165C>T						MAG_uc002nyx.1_Silent_p.D276D|MAG_uc010eds.1_Silent_p.D251D|MAG_uc002nyz.1_Silent_p.D276D	p.D276D	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	977	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	276			Ig-like C2-type 2.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.828C>T	CCDS12455.1																																																																																				0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		4	14	0	0	0	0	4	14				
HIPK4	147746	broad.mit.edu	37	19	40887043	40887043	+	Silent	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:40887043G>C	ENST00000291823.2	-	3	1139	c.855C>G	c.(853-855)ctC>ctG	p.L285L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAACGACTTGAGCATATACT	0.632																																						uc002onp.2		NA																	0				ovary(1)|stomach(1)	2						c.(853-855)CTC>CTG		homeodomain interacting protein kinase 4							42.0	37.0	39.0					19																	40887043		2202	4295	6497	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40887043G>C	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.855C>G	19.37:g.40887043G>C							p.L285L	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1140	-			285			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.855C>G	CCDS12555.1																																																																																				0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		12	34	0	0	0	0	12	34				
BCKDHA	593	broad.mit.edu	37	19	41932174	41932174	+	IGR	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr19:41932174C>T	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Silent_p.T170T|B3GNT8_ENST00000601379.1_5'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GACTGCCCCACGTCTCTCTCA	0.627																																						uc002oqs.2		NA																	0					0						c.(508-510)ACG>ACA		UDP-GlcNAc:betaGal							64.0	68.0	67.0					19																	41932174		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932174C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932174C>T						CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	p.T170T	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			3	964	-			170			Lumenal (Potential).		B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.510G>A	CCDS12581.1																																																																																				0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		22	76	0	0	0	0	22	76				
VIT	5212	broad.mit.edu	37	2	37028521	37028521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:37028521C>T	ENST00000389975.3	+	12	1393	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I	VIT_ENST00000497382.1_Missense_Mutation_p.T33I|VIT_ENST00000379242.3_Missense_Mutation_p.T379I|VIT_ENST00000401530.1_Missense_Mutation_p.T343I|VIT_ENST00000404084.1_Missense_Mutation_p.T316I|VIT_ENST00000379241.3_Missense_Mutation_p.T342I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	364	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGAAAATTACTCAGAGAGGA	0.393																																						uc002rpl.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1135-1137)ACT>ATT		vitrin							136.0	137.0	137.0					2																	37028521		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37028521C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1091C>T	2.37:g.37028521C>T	ENSP00000374625:p.Thr364Ile					VIT_uc002rpm.2_Missense_Mutation_p.T357I|VIT_uc010ezv.2_Missense_Mutation_p.T335I|VIT_uc010ezw.2_Missense_Mutation_p.T336I	p.T379I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			13	1357	+		all_hematologic(82;0.248)	364			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1136C>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462204	0.26248	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.66	4.76	0.60689	von Willebrand factor, type A (3);	0.589347	0.18733	N	0.132676	T	0.73613	0.3609	L	0.31804	0.96	0.09310	N	1	B;B;B;B	0.32604	0.044;0.377;0.044;0.118	B;B;B;B	0.36845	0.16;0.234;0.16;0.156	T	0.63994	-0.6511	10	0.38643	T	0.18	-9.9163	7.0212	0.24914	0.1317:0.6719:0.1271:0.0693	.	343;342;364;379	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	I	379;364;33;316;342;343	ENSP00000368544:T379I;ENSP00000374625:T364I;ENSP00000417874:T33I;ENSP00000384154:T316I;ENSP00000368543:T342I;ENSP00000385658:T343I	ENSP00000368543:T342I	T	+	2	0	VIT	36882025	0.001000	0.12720	0.414000	0.26521	0.489000	0.33432	0.373000	0.20484	1.342000	0.45619	0.655000	0.94253	ACT		0.393	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				13	167	0	0	0	0	13	167				
CNGA3	1261	broad.mit.edu	37	2	99013475	99013475	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:99013475G>A	ENST00000272602.2	+	7	1881	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	CNGA3_ENST00000436404.2_Silent_p.E596E|CNGA3_ENST00000409937.1_Silent_p.E618E|CNGA3_ENST00000393504.1_Silent_p.E614E			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	614					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGATCGATGAGGAGCTGGCCA	0.622																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1840-1842)GAG>GAA		cyclic nucleotide gated channel alpha 3 isoform							32.0	32.0	32.0					2																	99013475		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013475G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1842G>A	2.37:g.99013475G>A						CNGA3_uc002syu.2_Silent_p.E596E|CNGA3_uc010fij.2_Silent_p.E618E	p.E614E	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2259	+			614					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1842G>A	CCDS2034.1																																																																																				0.622	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		9	18	0	0	0	0	9	18				
CNGA3	1261	broad.mit.edu	37	2	99013493	99013493	+	Silent	SNP	C	C	T	rs529873704		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:99013493C>T	ENST00000272602.2	+	7	1899	c.1860C>T	c.(1858-1860)ggC>ggT	p.G620G	CNGA3_ENST00000436404.2_Silent_p.G602G|CNGA3_ENST00000409937.1_Silent_p.G624G|CNGA3_ENST00000393504.1_Silent_p.G620G			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	620					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CCAGGGCGGGCGCGGACCCCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18435	0.001		0.0	False		,,,				2504	0.0					uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1858-1860)GGC>GGT		cyclic nucleotide gated channel alpha 3 isoform							32.0	31.0	31.0					2																	99013493		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013493C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1860C>T	2.37:g.99013493C>T						CNGA3_uc002syu.2_Silent_p.G602G|CNGA3_uc010fij.2_Silent_p.G624G	p.G620G	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2277	+			620					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.1860C>T	CCDS2034.1																																																																																				0.622	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		3	17	0	0	0	0	3	17				
EPB41L5	57669	broad.mit.edu	37	2	120925517	120925517	+	Missense_Mutation	SNP	A	A	C	rs143558813	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:120925517A>C	ENST00000263713.5	+	24	2283	c.2069A>C	c.(2068-2070)cAt>cCt	p.H690P	EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000452780.1_Missense_Mutation_p.H689P|EPB41L5_ENST00000443902.2_Intron	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	690					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAGGAGGGACATGGTAATAAA	0.453																																						uc002tmg.2		NA																	0				ovary(1)	1						c.(2068-2070)CAT>CCT		erythrocyte membrane protein band 4.1 like 5		A	,PRO/HIS	3,4403	6.2+/-15.9	0,3,2200	155.0	136.0	142.0		,2069	-6.9	0.0	2	dbSNP_134	142	10,8590	7.7+/-29.5	0,10,4290	yes	intron,missense	EPB41L5	NM_001184937.1,NM_020909.3	,77	0,13,6490	CC,CA,AA		0.1163,0.0681,0.1	,benign	,690/734	120925517	13,12993	2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120925517A>C	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2069A>C	2.37:g.120925517A>C	ENSP00000263713:p.His690Pro					EPB41L5_uc010fll.2_Intron|EPB41L5_uc010flm.2_Missense_Mutation_p.H493P	p.H690P	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			24	2195	+			690					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.2069A>C	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407666	0.25378	6.81E-4	0.001163	ENSG00000115109	ENST00000263713;ENST00000452780	T;T	0.81078	-1.45;-1.45	5.08	-6.89	0.01660	.	0.899723	0.09221	N	0.831879	T	0.57710	0.2072	N	0.19112	0.55	0.09310	N	1	B;B	0.23735	0.09;0.054	B;B	0.23018	0.043;0.019	T	0.43829	-0.9367	10	0.30078	T	0.28	.	3.0708	0.06230	0.2557:0.2403:0.3962:0.1077	.	689;690	Q9HCM4-3;Q9HCM4	.;E41L5_HUMAN	P	690;689	ENSP00000263713:H690P;ENSP00000390439:H689P	ENSP00000263713:H690P	H	+	2	0	EPB41L5	120641987	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.237000	0.02922	-1.199000	0.02666	0.383000	0.25322	CAT		0.453	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		5	100	0	0	0	0	5	100				
NEB	4703	broad.mit.edu	37	2	152539240	152539240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:152539240C>G	ENST00000172853.10	-	29	3026	c.2879G>C	c.(2878-2880)gGc>gCc	p.G960A	NEB_ENST00000427231.2_Missense_Mutation_p.G960A|NEB_ENST00000409198.1_Missense_Mutation_p.G960A|NEB_ENST00000603639.1_Missense_Mutation_p.G960A|NEB_ENST00000397345.3_Missense_Mutation_p.G960A|NEB_ENST00000604864.1_Missense_Mutation_p.G960A			P20929	NEBU_HUMAN	nebulin	960					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGCACCCAGCCACAACCTTT	0.438																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2878-2880)GGC>GCC		nebulin isoform 3							91.0	94.0	93.0					2																	152539240		1926	4142	6068	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152539240C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2879G>C	2.37:g.152539240C>G	ENSP00000172853:p.Gly960Ala						p.G960A	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	29	3070	-			960			Nebulin 23.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2879G>C		.	.	.	.	.	.	.	.	.	.	C	25.4	4.639110	0.87760	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07114	3.22;3.26;3.26;3.27	5.79	5.79	0.91817	.	0.116928	0.64402	D	0.000014	T	0.32852	0.0843	M	0.85041	2.73	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	T	0.02705	-1.1121	10	0.51188	T	0.08	.	18.7927	0.91980	0.0:1.0:0.0:0.0	.	960	P20929	NEBU_HUMAN	A	960	ENSP00000386259:G960A;ENSP00000380505:G960A;ENSP00000416578:G960A;ENSP00000172853:G960A	ENSP00000172853:G960A	G	-	2	0	NEB	152247486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.260000	0.43267	2.735000	0.93741	0.561000	0.74099	GGC		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	19	0	0	0	0	3	19				
HOXD3	3232	broad.mit.edu	37	2	177036312	177036312	+	Silent	SNP	C	C	T	rs373952633		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:177036312C>T	ENST00000468418.3	+	4	2699	c.609C>T	c.(607-609)agC>agT	p.S203S	HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Silent_p.S203S|HOXD3_ENST00000249440.3_Silent_p.S203S			P31249	HXD3_HUMAN	homeobox D3	203					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CATACACGAGCGCGCAGCTGG	0.642																																						uc002ukt.1		NA																	0					0						c.(607-609)AGC>AGT		homeobox D3		C		1,4405		0,1,2202	53.0	52.0	52.0		609	-3.0	0.6	2		52	0,8600		0,0,4300	no	coding-synonymous	HOXD3	NM_006898.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		203/433	177036312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036312C>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.609C>T	2.37:g.177036312C>T							p.S203S	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	785	+			203			Homeobox.		Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.609C>T	CCDS2270.1																																																																																				0.642	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			11	35	0	0	0	0	11	35				
FN1	2335	broad.mit.edu	37	2	216274717	216274717	+	Missense_Mutation	SNP	C	C	T	rs375296345		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:216274717C>T	ENST00000359671.1	-	14	2327	c.2062G>A	c.(2062-2064)Ggc>Agc	p.G688S	FN1_ENST00000323926.6_Missense_Mutation_p.G688S|FN1_ENST00000356005.4_Missense_Mutation_p.G688S|FN1_ENST00000421182.1_Missense_Mutation_p.G688S|FN1_ENST00000432072.2_Missense_Mutation_p.G688S|FN1_ENST00000336916.4_Missense_Mutation_p.G688S|FN1_ENST00000346544.3_Missense_Mutation_p.G688S|FN1_ENST00000357009.2_Missense_Mutation_p.G688S|FN1_ENST00000345488.5_Missense_Mutation_p.G688S|FN1_ENST00000357867.4_Missense_Mutation_p.G688S|FN1_ENST00000443816.1_Missense_Mutation_p.G688S|FN1_ENST00000446046.1_Missense_Mutation_p.G688S|FN1_ENST00000354785.4_Missense_Mutation_p.G688S			P02751	FINC_HUMAN	fibronectin 1	688	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTTGGTGGCCGTACTGCTGG	0.552																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2062-2064)GGC>AGC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						331.0	320.0	324.0					2																	216274717		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216274717C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2062G>A	2.37:g.216274717C>T	ENSP00000352696:p.Gly688Ser					FN1_uc002vfb.2_Missense_Mutation_p.G688S|FN1_uc002vfc.2_Missense_Mutation_p.G688S|FN1_uc002vfd.2_Missense_Mutation_p.G688S|FN1_uc002vfe.2_Missense_Mutation_p.G688S|FN1_uc002vff.2_Missense_Mutation_p.G688S|FN1_uc002vfg.2_Missense_Mutation_p.G688S|FN1_uc002vfh.2_Missense_Mutation_p.G688S|FN1_uc002vfi.2_Missense_Mutation_p.G688S|FN1_uc002vfj.2_Missense_Mutation_p.G688S	p.G688S	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	14	2328	-		Renal(323;0.127)	688			Fibronectin type-III 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2062G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.795376	0.96952	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	D;D;D;D;D;D;D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	D	0.94886	0.8347	M	0.62723	1.935	0.80722	D	1	D;D;P;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.934;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.547;0.999;1.0;1.0;0.999;0.999;0.999;0.999	D	0.94753	0.7929	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	688;688;688;688;688;688;688;688;688;688	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	S	688	ENSP00000394423:G688S;ENSP00000323534:G688S;ENSP00000338200:G688S;ENSP00000350534:G688S;ENSP00000346839:G688S;ENSP00000352696:G688S;ENSP00000265312:G688S;ENSP00000273049:G688S;ENSP00000349509:G688S;ENSP00000410422:G688S;ENSP00000415018:G688S;ENSP00000399538:G688S;ENSP00000348285:G688S	ENSP00000265313:G688S	G	-	1	0	FN1	215982962	1.000000	0.71417	0.982000	0.44146	0.942000	0.58702	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GGC		0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		19	94	0	0	0	0	19	94				
SLC23A3	151295	broad.mit.edu	37	2	220033735	220033735	+	Intron	SNP	A	A	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:220033735A>T	ENST00000409878.3	-	4	525				SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000455516.2_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCCTTCTCACCTCCAGATA	0.557																																						uc002vjq.3		NA																	0				lung(1)	1						c.e4+1	Direct_reversal_of_damage|NHEJ	Synthetic construct DNA, clone: pF1KE1061, Homo sapiens NHEJ1 gene for nonhomologous end-joining factor 1, without stop codon, in Flexi system.							53.0	52.0	53.0					2																	220033735		1904	4116	6020	SO:0001627	intron_variant	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:220033735A>T	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.492+15T>A	2.37:g.220033735A>T						SLC23A3_uc010zkr.1_Intron|SLC23A3_uc010zks.1_Intron|SLC23A3_uc010fwb.2_Intron|SLC23A3_uc002vjs.1_Intron|SLC23A3_uc002vjt.1_Intron				Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	4		-		Renal(207;0.0915)						B7Z512|Q2PYN6|Q96NA6	Splice_Site	SNP	ENST00000409878.3	37	c.580_splice	CCDS46518.1																																																																																				0.557	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		12	31	0	0	0	0	12	31				
JAG1	182	broad.mit.edu	37	20	10630209	10630209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:10630209C>T	ENST00000254958.5	-	10	1824	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	JAG1_ENST00000423891.2_Missense_Mutation_p.D278N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	437	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|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)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACAGTCGCAGTAGTAG	0.458									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1309-1311)GAC>AAC		jagged 1 precursor							171.0	126.0	141.0					20																	10630209		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630209C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1309G>A	20.37:g.10630209C>T	ENSP00000254958:p.Asp437Asn					JAG1_uc010gcd.1_5'UTR	p.D437N	NM_000214	NP_000205	P78504	JAG1_HUMAN			10	1825	-			437			EGF-like 6; calcium-binding (Potential).|Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1309G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512207	0.44660	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91577	-2.87;-2.87	6.06	5.12	0.69794	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184708	0.56097	N	0.000023	T	0.80076	0.4557	N	0.05441	-0.05	0.58432	D	0.999991	B	0.15930	0.015	B	0.15870	0.014	T	0.74334	-0.3699	10	0.30078	T	0.28	.	11.4532	0.50164	0.0:0.863:0.0:0.137	.	437	P78504	JAG1_HUMAN	N	437;278	ENSP00000254958:D437N;ENSP00000389519:D278N	ENSP00000254958:D437N	D	-	1	0	JAG1	10578209	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	4.987000	0.63857	1.577000	0.49804	0.650000	0.86243	GAC		0.458	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		9	39	0	0	0	0	9	39				
PCSK2	5126	broad.mit.edu	37	20	17434530	17434530	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:17434530C>T	ENST00000262545.2	+	9	1344	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	PCSK2_ENST00000377899.1_Silent_p.Y324Y|PCSK2_ENST00000536609.1_Silent_p.Y308Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	343	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.Y343Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGCCCTGTACGACGAGAGCT	0.597																																						uc002wpm.2		NA																	1	Substitution - coding silent(1)	p.Y343Y(1)	central_nervous_system(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1027-1029)TAC>TAT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148.0	110.0	123.0					20																	17434530		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434530C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1029C>T	20.37:g.17434530C>T						PCSK2_uc002wpl.2_Silent_p.Y324Y|PCSK2_uc010zrm.1_Silent_p.Y308Y	p.Y343Y	NM_002594	NP_002585	P16519	NEC2_HUMAN			9	1349	+			343			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1029C>T	CCDS13125.1																																																																																				0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		24	50	0	0	0	0	24	50				
CD93	22918	broad.mit.edu	37	20	23065975	23065975	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:23065975G>A	ENST00000246006.4	-	1	1002	c.855C>T	c.(853-855)tgC>tgT	p.C285C		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	285	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCGGCAGCCGCAGAGGAAGG	0.647																																						uc002wsv.2		NA																	0				large_intestine(2)	2						c.(853-855)TGC>TGT		CD93 antigen precursor							74.0	84.0	81.0					20																	23065975		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065975G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.855C>T	20.37:g.23065975G>A							p.C285C	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1003	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		285			EGF-like 1.|Extracellular (Potential).		O00274	Silent	SNP	ENST00000246006.4	37	c.855C>T	CCDS13149.1																																																																																				0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		18	125	0	0	0	0	18	125				
MANBAL	63905	broad.mit.edu	37	20	35929759	35929759	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:35929759C>T	ENST00000373605.3	+	3	905	c.93C>T	c.(91-93)atC>atT	p.I31I	MANBAL_ENST00000373606.3_Silent_p.I31I|MANBAL_ENST00000397151.1_Silent_p.I31I|MANBAL_ENST00000397156.3_Silent_p.I31I|MANBAL_ENST00000397150.1_Silent_p.I31I|MANBAL_ENST00000397152.3_Silent_p.I31I			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	31						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				TGGGAGCCATCTTCCAGCTCA	0.602																																						uc002xgu.2		NA																	0					0						c.(91-93)ATC>ATT		mannosidase, beta A, lysosomal-like							107.0	95.0	99.0					20																	35929759		2203	4300	6503	SO:0001819	synonymous_variant	63905					integral to membrane		g.chr20:35929759C>T		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.93C>T	20.37:g.35929759C>T						MANBAL_uc002xgv.2_Silent_p.I31I|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	p.I31I	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN			3	305	+		Myeloproliferative disorder(115;0.00878)	31			Helical; (Potential).		A8KAA6|E1P5V3	Silent	SNP	ENST00000373605.3	37	c.93C>T	CCDS13293.1																																																																																				0.602	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077		5	140	0	0	0	0	5	140				
LPIN3	64900	broad.mit.edu	37	20	39978495	39978495	+	Silent	SNP	C	C	T	rs150401004		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:39978495C>T	ENST00000373257.3	+	6	811	c.720C>T	c.(718-720)gcC>gcT	p.A240A		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	240					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCCTAAGAGCCGAGTCCCACA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15224	0.0		0.001	False		,,,				2504	0.0					uc002xjx.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(718-720)GCC>GCT		lipin 3		C		3,4403		0,3,2200	31.0	34.0	33.0		720	-1.9	1.0	20	dbSNP_134	33	5,8595		0,5,4295	no	coding-synonymous	LPIN3	NM_022896.1		0,8,6495	TT,TC,CC		0.0581,0.0681,0.0615		240/852	39978495	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39978495C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.720C>T	20.37:g.39978495C>T						LPIN3_uc010ggh.2_Silent_p.A241A|LPIN3_uc010zwf.1_RNA	p.A240A	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN			6	811	+		Myeloproliferative disorder(115;0.000739)	240					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.720C>T	CCDS33469.1																																																																																				0.637	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		12	58	0	0	0	0	12	58				
WFDC8	90199	broad.mit.edu	37	20	44181876	44181876	+	Missense_Mutation	SNP	C	C	T	rs565130625		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr20:44181876C>T	ENST00000357199.4	-	5	563	c.485G>A	c.(484-486)cGt>cAt	p.R162H	WFDC8_ENST00000289953.2_Missense_Mutation_p.R162H	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	162	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACACTCCTTACGTTCAGTGAA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		22126	0.0		0.0	False		,,,				2504	0.001					uc002xow.2		NA																	0					0						c.(484-486)CGT>CAT		WAP four-disulfide core domain 8 precursor							128.0	103.0	111.0					20																	44181876		2203	4300	6503	SO:0001583	missense	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181876C>T	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.485G>A	20.37:g.44181876C>T	ENSP00000361735:p.Arg162His					WFDC8_uc002xox.2_Missense_Mutation_p.R162H	p.R162H	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			5	564	-		Myeloproliferative disorder(115;0.0122)	162			WAP 2.		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	ENST00000357199.4	37	c.485G>A	CCDS13361.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174825	0.57692	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.72615	-0.67;-0.67	4.91	2.84	0.33178	Whey acidic protein, 4-disulphide core (5);	0.266834	0.27362	N	0.019711	T	0.69088	0.3072	L	0.53561	1.675	0.09310	N	1	P	0.52842	0.956	P	0.52627	0.704	T	0.59209	-0.7497	10	0.45353	T	0.12	.	5.699	0.17871	0.1922:0.7095:0.0:0.0983	.	162	Q8IUA0	WFDC8_HUMAN	H	162	ENSP00000361735:R162H;ENSP00000289953:R162H	ENSP00000289953:R162H	R	-	2	0	WFDC8	43615290	0.000000	0.05858	0.808000	0.32385	0.056000	0.15407	0.074000	0.14662	1.439000	0.47511	0.655000	0.94253	CGT		0.488	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			11	58	0	0	0	0	11	58				
RRP1	8568	broad.mit.edu	37	21	45213246	45213246	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr21:45213246G>T	ENST00000497547.1	+	4	438	c.321G>T	c.(319-321)tgG>tgT	p.W107C		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATCGCGAGTGGACGGGCATTG	0.612																																						uc002zds.2		NA																	0					0						c.(319-321)TGG>TGT		ribosomal RNA processing 1 homolog							90.0	92.0	92.0					21																	45213246		1982	4153	6135	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45213246G>T	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.321G>T	21.37:g.45213246G>T	ENSP00000417464:p.Trp107Cys					RRP1_uc011aez.1_Missense_Mutation_p.W107C|RRP1_uc010gpk.1_5'UTR|RRP1_uc010gpl.1_Missense_Mutation_p.W5C	p.W107C	NM_003683	NP_003674	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	4	414	+			107					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.321G>T	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605700	0.66445	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.70399	-0.48	4.38	3.45	0.39498	.	0.000000	0.85682	D	0.000000	D	0.87557	0.6207	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	D	0.90405	0.4405	10	0.87932	D	0	-23.2353	11.5505	0.50719	0.0:0.1799:0.8201:0.0	.	107;107	B4DZM3;P56182	.;RRP1_HUMAN	C	107	ENSP00000417464:W107C	ENSP00000383237:W107C	W	+	3	0	RRP1	44037674	1.000000	0.71417	0.925000	0.36789	0.966000	0.64601	4.996000	0.63914	1.989000	0.58080	0.511000	0.50034	TGG		0.612	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		9	122	1	0	4.69e-08	5.24e-08	9	122				
CABIN1	23523	broad.mit.edu	37	22	24480679	24480679	+	Missense_Mutation	SNP	G	G	C	rs35231087		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr22:24480679G>C	ENST00000398319.2	+	21	3443	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	CABIN1_ENST00000263119.5_Missense_Mutation_p.E1020Q|CABIN1_ENST00000405822.2_Missense_Mutation_p.E970Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1020					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTCGCACAGAGAGGCCAGC	0.557																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(3058-3060)GAG>CAG		calcineurin binding protein 1							111.0	95.0	101.0					22																	24480679		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24480679G>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3058G>C	22.37:g.24480679G>C	ENSP00000381364:p.Glu1020Gln					CABIN1_uc002zzj.1_Missense_Mutation_p.E970Q|CABIN1_uc002zzl.1_Missense_Mutation_p.E1020Q	p.E1020Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			21	3185	+			1020					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3058G>C	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499518	0.44455	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.65916	0.03;-0.18;0.03	5.56	3.47	0.39725	.	0.288245	0.37261	N	0.002169	T	0.50650	0.1628	L	0.46157	1.445	0.80722	D	1	B;B	0.26445	0.149;0.092	B;B	0.21917	0.037;0.016	T	0.39482	-0.9612	10	0.21014	T	0.42	.	10.715	0.46006	0.0713:0.1323:0.7964:0.0	.	970;1020	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Q	1020;970;1020	ENSP00000263119:E1020Q;ENSP00000384694:E970Q;ENSP00000381364:E1020Q	ENSP00000263119:E1020Q	E	+	1	0	CABIN1	22810679	1.000000	0.71417	0.020000	0.16555	0.652000	0.38707	5.517000	0.67061	0.836000	0.34901	0.650000	0.86243	GAG		0.557	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		21	66	0	0	0	0	21	66				
CPNE9	151835	broad.mit.edu	37	3	9757188	9757188	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:9757188A>T	ENST00000383832.3	+	13	990	c.800A>T	c.(799-801)aAg>aTg	p.K267M	CPNE9_ENST00000383831.3_Missense_Mutation_p.K267M	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	267	Poly-Lys.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGTAAGAAGAAGAAATATGTC	0.498																																						uc003bsd.2		NA																	0				ovary(2)	2						c.(799-801)AAG>ATG		copine-like protein							121.0	114.0	116.0					3																	9757188		1939	4157	6096	SO:0001583	missense	151835							g.chr3:9757188A>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.800A>T	3.37:g.9757188A>T	ENSP00000373343:p.Lys267Met						p.K267M	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN			12	971	+	Medulloblastoma(99;0.227)		267			Poly-Lys.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.800A>T	CCDS2574.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.116471|5.116471	0.94385|0.94385	.|.	.|.	ENSG00000144550|ENSG00000144550	ENST00000273027|ENST00000383832;ENST00000383831	.|T;T	.|0.09538	.|3.1;2.97	4.84|4.84	4.84|4.84	0.62591|0.62591	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45337|0.45337	0.1337|0.1337	H|H	0.96048|0.96048	3.76|3.76	0.54753|0.54753	D|D	0.99998|0.99998	.|D	.|0.76494	.|0.999	.|D	.|0.72338	.|0.977	T|T	0.62770|0.62770	-0.6784|-0.6784	5|10	.|0.87932	.|D	.|0	.|.	13.5341|13.5341	0.61638|0.61638	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|267	.|Q8IYJ1	.|CPNE9_HUMAN	D|M	19|267	.|ENSP00000373343:K267M;ENSP00000373342:K267M	.|ENSP00000373342:K267M	E|K	+|+	3|2	2|0	CPNE9|CPNE9	9732188|9732188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.545000|0.545000	0.35147|0.35147	7.431000|7.431000	0.80335|0.80335	1.939000|1.939000	0.56221|0.56221	0.260000|0.260000	0.18958|0.18958	GAA|AAG		0.498	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		25	43	0	0	0	0	25	43				
CPNE9	151835	broad.mit.edu	37	3	9757198	9757198	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:9757198C>T	ENST00000383832.3	+	13	1000	c.810C>T	c.(808-810)gtC>gtT	p.V270V	CPNE9_ENST00000383831.3_Silent_p.V270V	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	270						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAATATGTCAACTCAGGAA	0.512																																						uc003bsd.2		NA																	0				ovary(2)	2						c.(808-810)GTC>GTT		copine-like protein							115.0	108.0	110.0					3																	9757198		1950	4161	6111	SO:0001819	synonymous_variant	151835							g.chr3:9757198C>T		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.810C>T	3.37:g.9757198C>T							p.V270V	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN			12	981	+	Medulloblastoma(99;0.227)		270					A1L430|A6NDX6|A8MSP8	Silent	SNP	ENST00000383832.3	37	c.810C>T	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694975	0.48202	.	.	ENSG00000144550	ENST00000273027	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5344	0.61639	0.0:0.8424:0.1576:0.0	.	.	.	.	X	23	.	.	Q	+	1	0	CPNE9	9732198	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	1.933000	0.40153	2.395000	0.81488	0.313000	0.20887	CAA		0.512	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		21	35	0	0	0	0	21	35				
TGM4	7047	broad.mit.edu	37	3	44952543	44952543	+	Missense_Mutation	SNP	C	C	T	rs201751613		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:44952543C>T	ENST00000296125.4	+	12	1768	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	567					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCATCATTGCGGAAATTGTG	0.453																																						uc003coc.3		NA																	0				ovary(1)	1						c.(1699-1701)GCG>GTG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						137.0	126.0	129.0					3																	44952543		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952543C>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1700C>T	3.37:g.44952543C>T	ENSP00000296125:p.Ala567Val						p.A567V	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	12	1773	+			567					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1700C>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794268	0.50102	.	.	ENSG00000163810	ENST00000296125	T	0.78595	-1.19	2.88	0.898	0.19264	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.143965	0.29987	U	0.010690	T	0.50701	0.1631	N	0.08118	0	0.09310	N	1	P	0.50443	0.935	B	0.37508	0.252	T	0.53287	-0.8460	10	0.66056	D	0.02	.	6.252	0.20852	0.0:0.7035:0.1871:0.1094	.	567	P49221	TGM4_HUMAN	V	567	ENSP00000296125:A567V	ENSP00000296125:A567V	A	+	2	0	TGM4	44927547	0.547000	0.26465	0.000000	0.03702	0.015000	0.08874	0.853000	0.27777	0.036000	0.15547	0.563000	0.77884	GCG		0.453	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		14	61	0	0	0	0	14	61				
SETD2	29072	broad.mit.edu	37	3	47098467	47098467	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:47098467A>C	ENST00000409792.3	-	15	6849	c.6807T>G	c.(6805-6807)aaT>aaG	p.N2269K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2269	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACACTATAATTCTGTCCCT	0.512			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(6805-6807)AAT>AAG		SET domain containing 2							90.0	89.0	89.0					3																	47098467		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098467A>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6807T>G	3.37:g.47098467A>C	ENSP00000386759:p.Asn2269Lys					SETD2_uc003cqv.2_Missense_Mutation_p.N2336K|SETD2_uc003cqt.1_RNA	p.N2269K	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6860	-		Acute lymphoblastic leukemia(5;0.0169)	2269			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6807T>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	14.07	2.424305	0.43020	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.44881	0.91	5.1	2.71	0.32032	.	0.093042	0.46145	D	0.000301	T	0.22399	0.0540	N	0.22421	0.69	0.34719	D	0.728571	P;P	0.38922	0.651;0.651	B;B	0.27887	0.084;0.084	T	0.29640	-1.0005	10	0.59425	D	0.04	.	8.3588	0.32346	0.6384:0.0:0.3616:0.0	.	2269;2269	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	2269	ENSP00000386759:N2269K	ENSP00000386759:N2269K	N	-	3	2	SETD2	47073471	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	0.897000	0.28390	0.498000	0.27948	0.533000	0.62120	AAT		0.512	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		17	48	0	0	0	0	17	48				
USP4	7375	broad.mit.edu	37	3	49362439	49362439	+	Missense_Mutation	SNP	T	T	G	rs567871548	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:49362439T>G	ENST00000265560.4	-	5	567	c.521A>C	c.(520-522)aAc>aCc	p.N174T	USP4_ENST00000416417.1_Missense_Mutation_p.N174T|USP4_ENST00000351842.4_Missense_Mutation_p.N174T|USP4_ENST00000415188.1_Missense_Mutation_p.N174T	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	174	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGCAGGGATGTTGAATAGCTT	0.498																																						uc003cwq.2		NA																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(520-522)AAC>ACC		ubiquitin specific protease 4 isoform a							171.0	170.0	170.0					3																	49362439		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49362439T>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.521A>C	3.37:g.49362439T>G	ENSP00000265560:p.Asn174Thr					USP4_uc003cwr.2_Missense_Mutation_p.N174T	p.N174T	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	5	600	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	174					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.521A>C	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625077	0.28889	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.32023	2.0;2.13;1.47	5.51	4.34	0.51931	.	0.433151	0.28476	N	0.015206	T	0.27241	0.0668	L	0.55481	1.735	0.35110	D	0.766012	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.004	T	0.22661	-1.0210	10	0.30854	T	0.27	-23.8508	8.5888	0.33674	0.0:0.1585:0.0:0.8415	.	174;174	Q13107-2;Q13107	.;UBP4_HUMAN	T	174	ENSP00000341028:N174T;ENSP00000265560:N174T;ENSP00000400623:N174T	ENSP00000265560:N174T	N	-	2	0	USP4	49337443	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.206000	0.72154	0.926000	0.37118	0.402000	0.26972	AAC		0.498	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		21	109	0	0	0	0	21	109				
TWF2	11344	broad.mit.edu	37	3	52263196	52263196	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:52263196C>T	ENST00000305533.5	-	9	1147	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TWF2_ENST00000499914.2_3'UTR|TLR9_ENST00000494383.1_Intron|TLR9_ENST00000597542.1_Intron	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	302	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGTCAGCTCTGCCCCATCG	0.652																																						uc003ddd.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(904-906)GAG>AAG		twinfilin-like protein							100.0	88.0	92.0					3																	52263196		2203	4300	6503	SO:0001583	missense	11344					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding	g.chr3:52263196C>T	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.904G>A	3.37:g.52263196C>T	ENSP00000303908:p.Glu302Lys					TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR	p.E302K	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1055	-			302			ADF-H 2.		Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.904G>A	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	C	36	5.668622	0.96754	.	.	ENSG00000247596	ENST00000305533	T	0.44482	0.92	5.04	5.04	0.67666	Actin-binding, cofilin/tropomyosin type (3);	.	.	.	.	T	0.65954	0.2741	M	0.83384	2.64	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	T	0.72261	-0.4345	9	0.66056	D	0.02	.	18.3781	0.90441	0.0:1.0:0.0:0.0	.	302	Q6IBS0	TWF2_HUMAN	K	302	ENSP00000303908:E302K	ENSP00000303908:E302K	E	-	1	0	TWF2	52238236	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.004000	0.70709	2.333000	0.79357	0.561000	0.74099	GAG		0.652	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			4	60	0	0	0	0	4	60				
SFMBT1	51460	broad.mit.edu	37	3	52941219	52941219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:52941219C>G	ENST00000394752.3	-	19	2579	c.2197G>C	c.(2197-2199)Gaa>Caa	p.E733Q	SFMBT1_ENST00000358080.2_Missense_Mutation_p.E733Q|SFMBT1_ENST00000394750.1_Missense_Mutation_p.E733Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.E733Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	733					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTTTTTTCTGACATTTCT	0.463																																						uc003dgf.2		NA																	0				ovary(1)	1						c.(2197-2199)GAA>CAA		Scm-like with four mbt domains 1							274.0	257.0	263.0					3																	52941219		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52941219C>G	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2197G>C	3.37:g.52941219C>G	ENSP00000378235:p.Glu733Gln					SFMBT1_uc010hmr.2_Missense_Mutation_p.E680Q|SFMBT1_uc003dgg.2_Missense_Mutation_p.E733Q|SFMBT1_uc003dgh.2_Missense_Mutation_p.E733Q	p.E733Q	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	20	2766	-			733					Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2197G>C	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150923	0.57151	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.14893	2.47;2.47;2.49;2.47	5.72	5.72	0.89469	.	0.272209	0.37348	N	0.002125	T	0.26702	0.0653	L	0.57536	1.79	0.41022	D	0.985084	D;D	0.65815	0.995;0.991	P;P	0.48454	0.578;0.469	T	0.01753	-1.1281	10	0.15952	T	0.53	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	733;733	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	Q	733	ENSP00000378235:E733Q;ENSP00000350789:E733Q;ENSP00000296295:E733Q;ENSP00000378233:E733Q	ENSP00000296295:E733Q	E	-	1	0	SFMBT1	52916259	0.990000	0.36364	0.954000	0.39281	0.999000	0.98932	3.514000	0.53422	2.865000	0.98341	0.655000	0.94253	GAA		0.463	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		8	87	0	0	0	0	8	87				
EPHA6	285220	broad.mit.edu	37	3	97202858	97202858	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:97202858G>C	ENST00000514100.1	+	7	573	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	EPHA6_ENST00000502694.1_Missense_Mutation_p.E111Q|EPHA6_ENST00000442602.2_Missense_Mutation_p.E85Q|EPHA6_ENST00000389672.5_Missense_Mutation_p.E719Q	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	625	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTTGCAAAGGAGATTGATCC	0.378																																						uc010how.1		NA																	0		p.A719S(1)		stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2155-2157)GAG>CAG		EPH receptor A6 isoform a							98.0	101.0	100.0					3																	97202858		1869	4102	5971	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97202858G>C	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.331G>C	3.37:g.97202858G>C	ENSP00000421711:p.Glu111Gln					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.E85Q|EPHA6_uc003drs.3_Missense_Mutation_p.E111Q|EPHA6_uc003drr.3_Missense_Mutation_p.E111Q|EPHA6_uc003drt.2_Missense_Mutation_p.E111Q|EPHA6_uc010hox.1_RNA	p.E719Q	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			10	2198	+			624			Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2155G>C		.	.	.	.	.	.	.	.	.	.	G	27.4	4.830960	0.91036	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.47	5.47	0.80525	Protein kinase-like domain (1);	.	.	.	.	T	0.80401	0.4616	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.85130	0.997;0.996;0.994;0.997	D	0.85055	0.0931	9	0.87932	D	0	.	19.3959	0.94607	0.0:0.0:1.0:0.0	.	85;624;111;111	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	Q	719;111;111;85	ENSP00000374323:E719Q;ENSP00000421711:E111Q;ENSP00000423950:E111Q;ENSP00000403100:E85Q	ENSP00000374323:E719Q	E	+	1	0	EPHA6	98685548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.585000	0.87301	0.556000	0.70494	GAG		0.378	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		10	25	0	0	0	0	10	25				
IMPG2	50939	broad.mit.edu	37	3	100963246	100963246	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:100963246C>T	ENST00000193391.7	-	13	2116	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	643					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGTCTTCAATCTCAGCTGGCA	0.413																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1927-1929)GAG>GAA		interphotoreceptor matrix proteoglycan 2							133.0	127.0	129.0					3																	100963246		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963246C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1929G>A	3.37:g.100963246C>T						IMPG2_uc011bhe.1_Silent_p.E506E	p.E643E	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2132	-			643			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.1929G>A	CCDS2940.1																																																																																				0.413	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			28	90	0	0	0	0	28	90				
PODXL2	50512	broad.mit.edu	37	3	127379692	127379692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:127379692G>A	ENST00000342480.6	+	3	860	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	274					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCTGCAGGGCTTGGGGTA	0.637																																						uc003ejq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(820-822)GGG>GAG		podocalyxin-like 2 precursor							34.0	38.0	37.0					3																	127379692		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379692G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.821G>A	3.37:g.127379692G>A	ENSP00000345359:p.Gly274Glu						p.G274E	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			3	845	+			274			Extracellular (Potential).		Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.821G>A	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	5.510	0.278995	0.10458	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.25912	1.77	4.67	2.85	0.33270	.	0.304009	0.28459	N	0.015272	T	0.12689	0.0308	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34428	-0.9829	10	0.02654	T	1	-27.2088	4.0124	0.09629	0.1975:0.0:0.6149:0.1875	.	274	Q9NZ53	PDXL2_HUMAN	E	274	ENSP00000345359:G274E	ENSP00000304498:G274E	G	+	2	0	PODXL2	128862382	0.166000	0.22962	0.006000	0.13384	0.062000	0.15995	1.055000	0.30467	1.096000	0.41439	-0.424000	0.05967	GGG		0.637	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		7	45	0	0	0	0	7	45				
EEFSEC	60678	broad.mit.edu	37	3	128127010	128127010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:128127010G>A	ENST00000254730.6	+	7	1753	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	EEFSEC_ENST00000483457.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	567					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGAGAGCGCCGAGCGGAGCGA	0.647																																						uc003eki.2		NA																	0				ovary(1)	1						c.(1699-1701)GAG>AAG		eukaryotic elongation factor,							102.0	83.0	89.0					3																	128127010		2203	4300	6503	SO:0001583	missense	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128127010G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.1699G>A	3.37:g.128127010G>A	ENSP00000254730:p.Glu567Lys					EEFSEC_uc003ekj.2_3'UTR	p.E567K	NM_021937	NP_068756	P57772	SELB_HUMAN			7	1737	+			567					Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	c.1699G>A	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043723	0.19748	.	.	ENSG00000132394	ENST00000254730	T	0.43688	0.94	4.79	2.77	0.32553	.	0.286130	0.36234	N	0.002720	T	0.22666	0.0547	L	0.38175	1.15	0.43698	D	0.99615	B	0.24368	0.102	B	0.15052	0.012	T	0.09335	-1.0679	10	0.11485	T	0.65	-7.3735	2.5114	0.04658	0.2168:0.0:0.4765:0.3068	.	567	P57772	SELB_HUMAN	K	567	ENSP00000254730:E567K	ENSP00000254730:E567K	E	+	1	0	EEFSEC	129609700	0.998000	0.40836	0.434000	0.26772	0.011000	0.07611	3.187000	0.50950	2.206000	0.71126	0.460000	0.39030	GAG		0.647	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		3	43	0	0	0	0	3	43				
IFT122	55764	broad.mit.edu	37	3	129180117	129180117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:129180117C>T	ENST00000348417.2	+	5	396	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	IFT122_ENST00000507564.1_Nonsense_Mutation_p.Q158*|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000347300.2_Nonsense_Mutation_p.Q107*|IFT122_ENST00000296266.3_Nonsense_Mutation_p.Q158*|IFT122_ENST00000431818.2_5'UTR	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	107					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATTACTCATCAACTGGCATC	0.398																																						uc003emm.2		NA																	0				ovary(1)|skin(1)	2						c.(319-321)CAA>TAA		WD repeat domain 10 isoform 2							257.0	199.0	218.0					3																	129180117		2203	4300	6503	SO:0001587	stop_gained	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129180117C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.319C>T	3.37:g.129180117C>T	ENSP00000324005:p.Gln107*					IFT122_uc003eml.2_Nonsense_Mutation_p.Q158*|IFT122_uc003emn.2_Nonsense_Mutation_p.Q107*|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_5'UTR|IFT122_uc010htc.2_Nonsense_Mutation_p.Q158*|IFT122_uc011bky.1_5'UTR|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_5'Flank|IFT122_uc011bla.1_5'Flank|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_5'Flank	p.Q107*	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			5	525	+			107			WD 3.		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	ENST00000348417.2	37	c.319C>T	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.535132|5.535132	0.96460|0.96460	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000348417;ENST00000514275|ENST00000508826;ENST00000512157	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76278	.|0.3965	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74352	.|-0.3693	.|4	0.17832|.	T|.	0.49|.	-14.0174|-14.0174	19.6224|19.6224	0.95663|0.95663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	107;158;158;107;107;67|58;93	.|.	ENSP00000296266:Q158X|.	Q|S	+|+	1|2	0|0	IFT122|IFT122	130662807|130662807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.848000|0.848000	0.48234|0.48234	7.481000|7.481000	0.81124|0.81124	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.398	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		15	53	0	0	0	0	15	53				
PIK3CA	5290	broad.mit.edu	37	3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:178937422T>C	ENST00000263967.3	+	12	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C604R(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACTTCTGGACTGTAATTACCC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)		endometrium(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1810-1812)TGT>CGT		phosphoinositide-3-kinase, catalytic, alpha							64.0	59.0	60.0					3																	178937422		1815	4069	5884	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178937422T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1810T>C	3.37:g.178937422T>C	ENSP00000263967:p.Cys604Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C604R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		12	1967	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		604			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1810T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671537	0.88348	.	.	ENSG00000121879	ENST00000263967	T	0.63580	-0.05	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.046220	0.85682	D	0.000000	T	0.66896	0.2836	L	0.46157	1.445	0.80722	D	1	P	0.43633	0.813	P	0.51055	0.657	T	0.62900	-0.6756	10	0.28530	T	0.3	-1.0E-4	16.4534	0.84003	0.0:0.0:0.0:1.0	.	604	P42336	PK3CA_HUMAN	R	604	ENSP00000263967:C604R	ENSP00000263967:C604R	C	+	1	0	PIK3CA	180420116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.285000	0.76669	0.477000	0.44152	TGT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	35	0	0	0	0	13	35				
DVL3	1857	broad.mit.edu	37	3	183882981	183882981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr3:183882981C>T	ENST00000313143.3	+	6	928	c.680C>T	c.(679-681)tCt>tTt	p.S227F	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.S227F	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	227					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGAAGGTTTCTCGGATTGAG	0.597																																						uc003fms.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(679-681)TCT>TTT		dishevelled 3							61.0	70.0	67.0					3																	183882981		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183882981C>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.680C>T	3.37:g.183882981C>T	ENSP00000316054:p.Ser227Phe					DVL3_uc011bqw.1_Missense_Mutation_p.S227F|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.S59F	p.S227F	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		6	820	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		227					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.680C>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494041	0.64186	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.06687	3.74;3.74;3.27	5.32	5.32	0.75619	PDZ/DHR/GLGF (1);	0.235047	0.43579	D	0.000558	T	0.08088	0.0202	N	0.14661	0.345	0.51012	D	0.999909	B;B;B	0.32693	0.38;0.38;0.38	B;B;B	0.34873	0.191;0.085;0.191	T	0.33828	-0.9853	10	0.72032	D	0.01	-14.6834	19.0048	0.92846	0.0:1.0:0.0:0.0	.	227;59;227	B4E3E5;Q9UG07;Q92997	.;.;DVL3_HUMAN	F	227;227;227;125	ENSP00000316054:S227F;ENSP00000405885:S227F;ENSP00000393849:S125F	ENSP00000316054:S227F	S	+	2	0	DVL3	185365675	0.998000	0.40836	0.567000	0.28434	0.991000	0.79684	7.818000	0.86416	2.480000	0.83734	0.655000	0.94253	TCT		0.597	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		13	30	0	0	0	0	13	30				
ZNF718	255403	broad.mit.edu	37	4	154749	154749	+	lincRNA	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:154749G>C	ENST00000510175.1	+	0	184							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCAGGGCATAGAAGATTCATT	0.328																																						uc003fzt.3		NA																	0					0						c.(274-276)GAA>CAA		zinc finger protein 718							51.0	53.0	52.0					4																	154749		2047	4231	6278			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:154749G>C	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.154749G>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR	p.E92Q	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	8	407	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	92					Q3SXZ4|Q3SXZ5	Missense_Mutation	SNP	ENST00000510175.1	37	c.274G>C																																																																																					0.328	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		9	39	0	0	0	0	9	39				
WFS1	7466	broad.mit.edu	37	4	6303197	6303197	+	Missense_Mutation	SNP	G	G	A	rs55814513	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr4:6303197G>A	ENST00000226760.1	+	8	1845	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T	WFS1_ENST00000503569.1_Missense_Mutation_p.A559T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	559			A -> T (in dbSNP:rs55814513). {ECO:0000269|PubMed:10624825}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTGCTCCGCGCCTCCATCGG	0.652													G|||	6	0.00119808	0.0	0.0	5008	,	,		19669	0.0		0.004	False		,,,				2504	0.002					uc003giy.2		NA																	0				central_nervous_system(2)	2	GRCh37	CM993371	WFS1	M	rs55814513	c.(1675-1677)GCC>ACC		wolframin		G	THR/ALA,THR/ALA	7,4399	14.3+/-33.2	0,7,2196	68.0	76.0	73.0		1675,1675	5.0	0.3	4	dbSNP_129	73	51,8549	32.8+/-85.7	0,51,4249	yes	missense,missense	WFS1	NM_001145853.1,NM_006005.3	58,58	0,58,6445	AA,AG,GG		0.593,0.1589,0.4459	benign,benign	559/891,559/891	6303197	58,12948	2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6303197G>A	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1675G>A	4.37:g.6303197G>A	ENSP00000226760:p.Ala559Thr					WFS1_uc003gix.2_Missense_Mutation_p.A559T|WFS1_uc003giz.2_Missense_Mutation_p.A377T	p.A559T	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1841	+			559					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1675G>A	CCDS3386.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	8.270	0.813162	0.16537	0.001589	0.00593	ENSG00000109501	ENST00000503569;ENST00000226760	T;T	0.81330	-1.48;-1.48	4.97	4.97	0.65823	.	0.053364	0.85682	D	0.000000	T	0.69088	0.3072	L	0.49455	1.56	0.52501	D	0.999951	B	0.33857	0.429	B	0.28849	0.095	T	0.72606	-0.4242	10	0.33940	T	0.23	-36.7096	17.2226	0.86961	0.0:0.0:1.0:0.0	rs55814513;rs62622376	559	O76024	WFS1_HUMAN	T	559	ENSP00000423337:A559T;ENSP00000226760:A559T	ENSP00000226760:A559T	A	+	1	0	WFS1	6354098	1.000000	0.71417	0.298000	0.25002	0.660000	0.38997	5.218000	0.65257	2.308000	0.77769	0.561000	0.74099	GCC		0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			6	100	0	0	0	0	6	100				
CDH10	1008	broad.mit.edu	37	5	24488189	24488189	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:24488189G>C	ENST00000264463.4	-	12	2457	c.1950C>G	c.(1948-1950)atC>atG	p.I650M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	650					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(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTTGTCTCTGATATCTTCTT	0.428										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1948-1950)ATC>ATG		cadherin 10, type 2 preproprotein							59.0	60.0	60.0					5																	24488189		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488189G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1950C>G	5.37:g.24488189G>C	ENSP00000264463:p.Ile650Met	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.I650M	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2282	-			650			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1950C>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049046	0.36181	.	.	ENSG00000040731	ENST00000264463	T	0.79352	-1.26	5.25	5.25	0.73442	Cadherin, cytoplasmic domain (1);	0.049690	0.85682	D	0.000000	D	0.86944	0.6055	M	0.71581	2.175	0.40488	D	0.980514	D	0.76494	0.999	D	0.71414	0.973	D	0.86687	0.1920	10	0.40728	T	0.16	.	17.8387	0.88709	0.0:0.0:1.0:0.0	.	650	Q9Y6N8	CAD10_HUMAN	M	650	ENSP00000264463:I650M	ENSP00000264463:I650M	I	-	3	3	CDH10	24523946	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.440000	0.44855	2.469000	0.83416	0.655000	0.94253	ATC		0.428	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	51	0	0	0	0	6	51				
SV2C	22987	broad.mit.edu	37	5	75427937	75427937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:75427937G>A	ENST00000502798.2	+	2	804	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R121Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	121					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGGACCGGCGGGAGCTGGAA	0.547																																						uc003kei.1		NA																	0				skin(1)	1						c.(361-363)CGG>CAG		synaptic vesicle glycoprotein 2C							102.0	118.0	113.0					5																	75427937		2051	4208	6259	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75427937G>A	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.362G>A	5.37:g.75427937G>A	ENSP00000423541:p.Arg121Gln						p.R121Q	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	2	496	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	121			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.362G>A	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	4.932	0.173131	0.09391	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.41065	1.01;1.01	5.71	-6.32	0.01995	Major facilitator superfamily domain, general substrate transporter (1);	0.937677	0.08971	N	0.867289	T	0.21427	0.0516	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.25047	-1.0143	10	0.19147	T	0.46	-1.7232	7.3621	0.26752	0.3331:0.0753:0.516:0.0756	.	121	Q496J9	SV2C_HUMAN	Q	121	ENSP00000423541:R121Q;ENSP00000316983:R121Q	ENSP00000316983:R121Q	R	+	2	0	SV2C	75463693	0.000000	0.05858	0.006000	0.13384	0.484000	0.33280	-0.815000	0.04481	-1.281000	0.02399	-0.907000	0.02831	CGG		0.547	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			7	49	0	0	0	0	7	49				
PCDHA3	56145	broad.mit.edu	37	5	140180884	140180884	+	Silent	SNP	C	C	A	rs554911037		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:140180884C>A	ENST00000522353.2	+	1	102	c.102C>A	c.(100-102)tcC>tcA	p.S34S	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S34S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	34	Cadherin 1. {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)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCTCTGAGG	0.667																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(100-102)TCC>TCA		protocadherin alpha 3 isoform 1 precursor							58.0	65.0	62.0					5																	140180884		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180884C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.102C>A	5.37:g.140180884C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S34S	p.S34S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	102	+			34			Cadherin 1.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.102C>A	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		26	73	1	0	1.85e-09	2.11e-09	26	73				
PCDHB14	56122	broad.mit.edu	37	5	140605383	140605383	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:140605383C>A	ENST00000239449.4	+	1	2306	c.2306C>A	c.(2305-2307)cCg>cAg	p.P769Q	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P616Q	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	769					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCTGAAGCCGATTATCCCC	0.453																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(2305-2307)CCG>CAG		protocadherin beta 14 precursor							83.0	94.0	90.0					5																	140605383		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605383C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2306C>A	5.37:g.140605383C>A	ENSP00000239449:p.Pro769Gln					PCDHB14_uc011dal.1_Missense_Mutation_p.P616Q	p.P769Q	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2306	+			769			Cytoplasmic (Potential).		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2306C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	17.33	3.363572	0.61513	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.17528	2.27;2.27	4.02	4.02	0.46733	.	.	.	.	.	T	0.58609	0.2134	H	0.97918	4.105	0.31795	N	0.629163	D	0.89917	1.0	D	0.75020	0.985	T	0.77461	-0.2579	9	0.87932	D	0	.	16.1032	0.81201	0.0:1.0:0.0:0.0	.	769	Q9Y5E9	PCDBE_HUMAN	Q	616;769	ENSP00000444518:P616Q;ENSP00000239449:P769Q	ENSP00000239449:P769Q	P	+	2	0	PCDHB14	140585567	0.999000	0.42202	0.830000	0.32933	0.105000	0.19272	3.456000	0.53000	1.930000	0.55929	0.591000	0.81541	CCG		0.453	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		8	90	1	0	5.49e-09	6.21e-09	8	90				
SLIT3	6586	broad.mit.edu	37	5	168112816	168112816	+	Missense_Mutation	SNP	C	C	T	rs200999102		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:168112816C>T	ENST00000519560.1	-	31	3850	c.3431G>A	c.(3430-3432)cGc>cAc	p.R1144H	SLIT3_ENST00000404867.3_Missense_Mutation_p.R1144H|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1151H	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1144	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGCAGCGGCAGGTGGG	0.647																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(3430-3432)CGC>CAC		slit homolog 3 precursor							46.0	45.0	45.0					5																	168112816		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168112816C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3431G>A	5.37:g.168112816C>T	ENSP00000430333:p.Arg1144His					SLIT3_uc010jjg.2_Missense_Mutation_p.R1151H	p.R1144H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		31	3851	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1144			EGF-like 6.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3431G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599593	0.87055	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.92348	-3.02;-3.02;-3.02	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	L	0.31526	0.94	0.80722	D	1	P	0.51240	0.943	P	0.60345	0.873	D	0.93982	0.7259	10	0.72032	D	0.01	.	18.1261	0.89586	0.0:1.0:0.0:0.0	.	1144	O75094	SLIT3_HUMAN	H	1144;1151;1144	ENSP00000430333:R1144H;ENSP00000332164:R1151H;ENSP00000384890:R1144H	ENSP00000332164:R1151H	R	-	2	0	SLIT3	168045394	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.073000	0.41519	2.349000	0.79799	0.561000	0.74099	CGC		0.647	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		4	20	0	0	0	0	4	20				
TBC1D9B	23061	broad.mit.edu	37	5	179321452	179321452	+	Missense_Mutation	SNP	G	G	A	rs190115688		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr5:179321452G>A	ENST00000356834.3	-	4	548	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R171W	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	171	GRAM 1.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCCTGCCGGGGCACGCGG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14332	0.0		0.001	False		,,,				2504	0.0					uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(511-513)CGG>TGG		TBC1 domain family, member 9B (with GRAM domain)		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	43.0	42.0	42.0		511,511	1.6	1.0	5		42	1,8599		0,1,4299	yes	missense,missense	TBC1D9B	NM_015043.3,NM_198868.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	171/1234,171/1251	179321452	1,13005	2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179321452G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.511C>T	5.37:g.179321452G>A	ENSP00000349291:p.Arg171Trp					TBC1D9B_uc003mli.2_Missense_Mutation_p.R171W|TBC1D9B_uc003mlj.2_Missense_Mutation_p.R171W	p.R171W	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	548	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	171			GRAM 1.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.511C>T	CCDS43408.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.32	3.804543	0.70682	0.0	1.16E-4	ENSG00000197226	ENST00000356834;ENST00000355235	D;D	0.87729	-2.29;-2.29	4.84	1.6	0.23607	GRAM (2);	0.066265	0.64402	D	0.000017	D	0.92309	0.7560	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92376	0.5909	10	0.87932	D	0	-23.1606	13.045	0.58920	0.0:0.0:0.2817:0.7183	.	171;171;171	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	W	171	ENSP00000349291:R171W;ENSP00000347375:R171W	ENSP00000347375:R171W	R	-	1	2	TBC1D9B	179254058	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	2.692000	0.47018	0.554000	0.29061	0.585000	0.79938	CGG		0.627	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		3	41	0	0	0	0	3	41				
SLC39A7	7922	broad.mit.edu	37	6	33169860	33169860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:33169860C>G	ENST00000374677.3	+	3	965	c.592C>G	c.(592-594)Cac>Gac	p.H198D	RXRB_ENST00000374680.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|HSD17B8_ENST00000374662.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.H198D	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	198					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCTCATTCTCACCACACTCT	0.527																																						uc003odf.2		NA																	0				large_intestine(1)	1						c.(592-594)CAC>GAC		solute carrier family 39, member 7							77.0	76.0	76.0					6																	33169860		1220	2543	3763	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169860C>G	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.592C>G	6.37:g.33169860C>G	ENSP00000363809:p.His198Asp					RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.H198D|SLC39A7_uc011dqv.1_Missense_Mutation_p.H73D|SLC39A7_uc003odh.2_5'Flank|HSD17B8_uc003odi.1_5'Flank	p.H198D	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN			4	709	+			198					B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.592C>G	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149275	0.57151	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T;T	0.50001	0.76;0.76;0.76	4.71	4.71	0.59529	.	0.300656	0.30392	N	0.009730	T	0.31009	0.0783	M	0.71036	2.16	0.52099	D	0.999948	P;P	0.39094	0.659;0.476	B;B	0.34873	0.191;0.142	T	0.25082	-1.0142	10	0.39692	T	0.17	-5.3271	10.9513	0.47332	0.0:0.8106:0.1894:0.0	.	179;198	B4DVK8;Q92504	.;S39A7_HUMAN	D	108;198;179;103;198	ENSP00000400978:H108D;ENSP00000363807:H198D;ENSP00000363809:H198D	ENSP00000363807:H198D	H	+	1	0	SLC39A7	33277838	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.299000	0.51826	2.434000	0.82447	0.549000	0.68633	CAC		0.527	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		13	68	0	0	0	0	13	68				
DAXX	1616	broad.mit.edu	37	6	33288181	33288181	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:33288181G>A	ENST00000374542.5	-	4	1431	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	DAXX_ENST00000266000.6_Silent_p.P409P|DAXX_ENST00000414083.2_Silent_p.P334P|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	409	Interaction with histone H3.3.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGGAGGCTTCGGGGGTGTCTG	0.542			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(1225-1227)CCC>CCT		death-domain associated protein isoform a							99.0	96.0	97.0					6																	33288181		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288181G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1227C>T	6.37:g.33288181G>A						ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.P334P|DAXX_uc011dre.1_Silent_p.P421P|DAXX_uc003oed.2_Silent_p.P409P|DAXX_uc010juw.2_Silent_p.P334P	p.P409P	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			4	1431	-			409			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1227C>T	CCDS4776.1																																																																																				0.542	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	85	0	0	0	0	4	85				
FILIP1	27145	broad.mit.edu	37	6	76024909	76024909	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:76024909C>A	ENST00000237172.7	-	5	969	c.639G>T	c.(637-639)aaG>aaT	p.K213N	FILIP1_ENST00000393004.2_Missense_Mutation_p.K213N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.K114N	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	213										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTCAAGGAGCTTTTTTAACC	0.299																																						uc003pia.2		NA																	0				skin(3)|ovary(1)	4						c.(637-639)AAG>AAT		filamin A interacting protein 1							50.0	48.0	49.0					6																	76024909		2202	4300	6502	SO:0001583	missense	27145							g.chr6:76024909C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.639G>T	6.37:g.76024909C>A	ENSP00000237172:p.Lys213Asn					FILIP1_uc003phy.1_Missense_Mutation_p.K213N|FILIP1_uc003phz.2_Missense_Mutation_p.K114N|FILIP1_uc010kbe.2_Missense_Mutation_p.K216N|FILIP1_uc003pib.1_5'UTR	p.K213N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	1012	-			213			Potential.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.639G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531779	0.45073	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.47869	0.83;0.83;0.83	5.86	2.09	0.27110	Cortactin-binding protein-2, N-terminal (1);	0.197016	0.51477	D	0.000100	T	0.45577	0.1349	M	0.62723	1.935	0.47123	D	0.999326	D;D;D	0.67145	0.992;0.996;0.995	D;D;P	0.64687	0.913;0.928;0.881	T	0.38693	-0.9649	10	0.37606	T	0.19	-35.9469	8.6705	0.34147	0.0:0.4654:0.0:0.5346	.	213;213;213	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	N	213;213;114	ENSP00000376728:K213N;ENSP00000237172:K213N;ENSP00000359037:K114N	ENSP00000237172:K213N	K	-	3	2	FILIP1	76081629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.898000	0.28404	0.166000	0.19597	0.650000	0.86243	AAG		0.299	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		7	29	1	0	8.13e-05	8.72e-05	7	29				
SOBP	55084	broad.mit.edu	37	6	107854757	107854757	+	Silent	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:107854757C>T	ENST00000317357.5	+	4	1175	c.516C>T	c.(514-516)agC>agT	p.S172S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGGTGAAAAGCTTCTGCAGCG	0.512																																						uc003prx.2		NA																	0				ovary(1)	1						c.(514-516)AGC>AGT		sine oculis binding protein homolog							119.0	124.0	123.0					6																	107854757		1952	4149	6101	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107854757C>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.516C>T	6.37:g.107854757C>T						SOBP_uc003prw.1_Silent_p.S172S	p.S172S	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	4	1020	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	172			FCS-type 1.			Silent	SNP	ENST00000317357.5	37	c.516C>T	CCDS43488.1																																																																																				0.512	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		31	115	0	0	0	0	31	115				
LAMA4	3910	broad.mit.edu	37	6	112441515	112441515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:112441515C>T	ENST00000230538.7	-	33	5033	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E1539K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E1539K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1539K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1546	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGTATTTCTCCTGGCTTCTA	0.418																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4636-4638)GAG>AAG		laminin, alpha 4 isoform 1 precursor							143.0	136.0	138.0					6																	112441515		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112441515C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4636G>A	6.37:g.112441515C>T	ENSP00000230538:p.Glu1546Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.E1539K|LAMA4_uc003pvt.2_Missense_Mutation_p.E1539K	p.E1546K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	33	4945	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1546			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4636G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226414	0.95173	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	6.02	6.02	0.97574	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.051057	0.85682	D	0.000000	T	0.81230	0.4779	L	0.46947	1.48	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.941	T	0.74494	-0.3647	10	0.22706	T	0.39	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1546;1539	Q16363;Q16363-2	LAMA4_HUMAN;.	K	1546;1539;1539;1539	ENSP00000230538:E1546K;ENSP00000429488:E1539K;ENSP00000374114:E1539K;ENSP00000416470:E1539K	ENSP00000230538:E1546K	E	-	1	0	LAMA4	112548208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.867000	0.75511	2.857000	0.98124	0.650000	0.86243	GAG		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		21	68	0	0	0	0	21	68				
IGF2R	3482	broad.mit.edu	37	6	160453983	160453983	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:160453983A>G	ENST00000356956.1	+	9	1203	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	352					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GGTTCATCCTATATTTCAGAT	0.308																																						uc003qta.2		NA																	0				ovary(3)	3						c.(1054-1056)TAT>TGT		insulin-like growth factor 2 receptor precursor							81.0	89.0	86.0					6																	160453983		2202	4300	6502	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160453983A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1055A>G	6.37:g.160453983A>G	ENSP00000349437:p.Tyr352Cys						p.Y352C	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	9	1203	+		Breast(66;0.000777)|Ovarian(120;0.0305)	352			Lumenal (Potential).|3.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1055A>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810045	0.32053	.	.	ENSG00000197081	ENST00000356956	T	0.04502	3.61	4.81	3.47	0.39725	Mannose-6-phosphate receptor, binding (1);	0.560001	0.19577	N	0.110942	T	0.09158	0.0226	M	0.91920	3.255	0.09310	N	0.999998	D	0.61080	0.989	P	0.56042	0.79	T	0.13495	-1.0507	10	0.48119	T	0.1	-12.7826	5.9117	0.19031	0.6279:0.1183:0.0:0.2538	.	352	P11717	MPRI_HUMAN	C	352	ENSP00000349437:Y352C	ENSP00000349437:Y352C	Y	+	2	0	IGF2R	160373973	0.011000	0.17503	0.002000	0.10522	0.001000	0.01503	0.337000	0.19841	1.935000	0.56089	0.533000	0.62120	TAT		0.308	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		21	74	0	0	0	0	21	74				
UNC93A	54346	broad.mit.edu	37	6	167728857	167728857	+	Missense_Mutation	SNP	G	G	A	rs536332358		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:167728857G>A	ENST00000230256.3	+	8	1466	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	UNC93A_ENST00000366829.2_Missense_Mutation_p.V389M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	431						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGGAGTGCGTGGAGTCCAA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20644	0.0		0.001	False		,,,				2504	0.0					uc003qvq.2		NA																	0					0						c.(1291-1293)GTG>ATG		unc-93 homolog A isoform 1							219.0	236.0	230.0					6																	167728857		2203	4300	6503	SO:0001583	missense	54346					integral to membrane|plasma membrane		g.chr6:167728857G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1291G>A	6.37:g.167728857G>A	ENSP00000230256:p.Val431Met					UNC93A_uc003qvr.2_Missense_Mutation_p.V389M	p.V431M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1466	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	431					B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	c.1291G>A	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	G	3.821	-0.037740	0.07497	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.04917	3.54;3.53	3.86	-1.64	0.08318	Major facilitator superfamily domain, general substrate transporter (1);	1.276180	0.05649	N	0.584918	T	0.00998	0.0033	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.005	B;B	0.08055	0.003;0.001	T	0.48570	-0.9024	10	0.33940	T	0.23	0.1209	2.892	0.05679	0.3838:0.2611:0.2703:0.0848	.	389;431	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	431;389	ENSP00000230256:V431M;ENSP00000355794:V389M	ENSP00000230256:V431M	V	+	1	0	UNC93A	167648847	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.824000	0.00747	-0.359000	0.08150	-1.520000	0.00934	GTG		0.547	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		21	306	0	0	0	0	21	306				
DLL1	28514	broad.mit.edu	37	6	170594698	170594698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr6:170594698C>T	ENST00000366756.3	-	6	1154	c.821G>A	c.(820-822)tGc>tAc	p.C274Y		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	274	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGGCAGTTGCACTGCCAGGG	0.627																																						uc003qxm.2		NA																	0				lung(4)|ovary(1)	5						c.(820-822)TGC>TAC		delta-like 1 precursor							39.0	47.0	44.0					6																	170594698		2203	4300	6503	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594698C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.821G>A	6.37:g.170594698C>T	ENSP00000355718:p.Cys274Tyr						p.C274Y	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	6	1291	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	274			Extracellular (Potential).|EGF-like 2.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.821G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737847	0.89573	.	.	ENSG00000198719	ENST00000366756	T	0.11495	2.77	5.08	5.08	0.68730	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73805	-0.3867	10	0.87932	D	0	.	18.4705	0.90773	0.0:1.0:0.0:0.0	.	274	O00548	DLL1_HUMAN	Y	274	ENSP00000355718:C274Y	ENSP00000355718:C274Y	C	-	2	0	DLL1	170436623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.376000	0.81061	0.563000	0.77884	TGC		0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			23	45	0	0	0	0	23	45				
SDK1	221935	broad.mit.edu	37	7	4116798	4116798	+	Missense_Mutation	SNP	C	C	T	rs367596251	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:4116798C>T	ENST00000404826.2	+	21	3318	c.3179C>T	c.(3178-3180)aCc>aTc	p.T1060I	SDK1_ENST00000389531.3_Missense_Mutation_p.T1060I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1060	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACTTCATCCACCATTTCTTCT	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18628	0.0		0.0	False		,,,				2504	0.0					uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(3178-3180)ACC>ATC		sidekick 1 precursor		C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	120.0	95.0	104.0		3179	5.4	1.0	7		104	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1060/2214	4116798	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4116798C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3179C>T	7.37:g.4116798C>T	ENSP00000385899:p.Thr1060Ile					SDK1_uc010kso.2_Missense_Mutation_p.T336I	p.T1060I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	21	3318	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1060			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3179C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815198	0.90790	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.64260	-0.09;-0.09	5.37	5.37	0.77165	Fibronectin, type III (1);	0.000000	0.64402	D	0.000003	T	0.75917	0.3915	L	0.52905	1.665	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.953	T	0.73395	-0.3996	10	0.36615	T	0.2	.	19.1217	0.93365	0.0:1.0:0.0:0.0	.	1060;1060	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	I	1060	ENSP00000385899:T1060I;ENSP00000374182:T1060I	ENSP00000374182:T1060I	T	+	2	0	SDK1	4083324	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.654000	0.83653	2.525000	0.85131	0.650000	0.86243	ACC		0.562	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		6	27	0	0	0	0	6	27				
EPO	2056	broad.mit.edu	37	7	100320671	100320671	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:100320671G>A	ENST00000252723.2	+	5	678	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	166					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACACTTTCCGCAAACTCTTC	0.572																																						uc003uwi.2		NA																	0				central_nervous_system(2)	2						c.(496-498)CGC>CAC		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						126.0	129.0	128.0					7																	100320671		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320671G>A	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.497G>A	7.37:g.100320671G>A	ENSP00000252723:p.Arg166His					EPO_uc011kkc.1_Missense_Mutation_p.R165H	p.R166H	NM_000799	NP_000790	P01588	EPO_HUMAN			5	678	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		166					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.497G>A	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	8.531	0.870924	0.17322	.	.	ENSG00000130427	ENST00000252723	T	0.48836	0.8	5.27	2.26	0.28386	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.580439	0.18303	N	0.145360	T	0.23014	0.0556	N	0.08118	0	0.19775	N	0.99996	B;B	0.23806	0.091;0.091	B;B	0.08055	0.003;0.003	T	0.11616	-1.0580	10	0.46703	T	0.11	-36.0186	6.5646	0.22505	0.0954:0.3568:0.5478:0.0	.	165;166	B7ZKK5;P01588	.;EPO_HUMAN	H	166	ENSP00000252723:R166H	ENSP00000252723:R166H	R	+	2	0	EPO	100158607	0.997000	0.39634	0.797000	0.32132	0.101000	0.19017	1.375000	0.34295	1.333000	0.45449	0.643000	0.83706	CGC		0.572	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		28	134	0	0	0	0	28	134				
RELN	5649	broad.mit.edu	37	7	103132413	103132413	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:103132413T>C	ENST00000428762.1	-	58	9589	c.9430A>G	c.(9430-9432)Act>Gct	p.T3144A	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.T3144A|RELN_ENST00000343529.5_Missense_Mutation_p.T3144A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3144					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCATCCTTAGTGTATTCCAGC	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9430-9432)ACT>GCT		reelin isoform a							91.0	82.0	85.0					7																	103132413		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132413T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9430A>G	7.37:g.103132413T>C	ENSP00000392423:p.Thr3144Ala					RELN_uc010liz.2_Missense_Mutation_p.T3144A	p.T3144A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9590	-			3144			BNR 15.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9430A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955382	0.53293	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.22945	1.93;1.93;1.93	5.93	5.93	0.95920	Neuraminidase (1);	0.055644	0.85682	D	0.000000	T	0.20901	0.0503	N	0.22421	0.69	0.44603	D	0.997577	B;B	0.25743	0.133;0.014	B;B	0.31245	0.126;0.017	T	0.05533	-1.0879	10	0.59425	D	0.04	.	12.0491	0.53498	0.129:0.0:0.0:0.871	.	3144;3144	P78509-2;P78509	.;RELN_HUMAN	A	3144;3144;3144;661;3144	ENSP00000392423:T3144A;ENSP00000345694:T3144A;ENSP00000388446:T3144A	ENSP00000345694:T3144A	T	-	1	0	RELN	102919649	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.563000	0.67352	2.271000	0.75665	0.459000	0.35465	ACT		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	16	0	0	0	0	7	16				
NUP205	23165	broad.mit.edu	37	7	135323426	135323426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:135323426G>A	ENST00000285968.6	+	38	5413	c.5387G>A	c.(5386-5388)cGg>cAg	p.R1796Q		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1796					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GATGGACCGCGGCAAGGTGAG	0.438																																						uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(5386-5388)CGG>CAG		nucleoporin 205kDa							163.0	146.0	152.0					7																	135323426		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135323426G>A	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5387G>A	7.37:g.135323426G>A	ENSP00000285968:p.Arg1796Gln					NUP205_uc003vsx.2_RNA	p.R1796Q	NM_015135	NP_055950	Q92621	NU205_HUMAN			38	5418	+			1796					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.5387G>A	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.713747	0.89112	.	.	ENSG00000155561	ENST00000285968	T	0.33865	1.39	5.26	5.26	0.73747	.	0.122960	0.56097	D	0.000037	T	0.47060	0.1425	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.26916	-1.0089	10	0.19147	T	0.46	-13.0615	18.8691	0.92306	0.0:0.0:1.0:0.0	.	1796	Q92621	NU205_HUMAN	Q	1796	ENSP00000285968:R1796Q	ENSP00000285968:R1796Q	R	+	2	0	NUP205	134973966	1.000000	0.71417	0.939000	0.37840	0.515000	0.34225	7.939000	0.87685	2.458000	0.83093	0.460000	0.39030	CGG		0.438	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			43	108	0	0	0	0	43	108				
TAS2R40	259286	broad.mit.edu	37	7	142919983	142919983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:142919983T>C	ENST00000408947.3	+	1	854	c.812T>C	c.(811-813)tTt>tCt	p.F271S	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	271					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCCAACATCTTTGACACTTAC	0.473																																						uc011ksx.1		NA																	0				ovary(1)	1						c.(811-813)TTT>TCT		taste receptor, type 2, member 40							115.0	114.0	114.0					7																	142919983		1931	4149	6080	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919983T>C	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.812T>C	7.37:g.142919983T>C	ENSP00000386210:p.Phe271Ser						p.F271S	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	812	+	Melanoma(164;0.059)		271			Extracellular (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.812T>C	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367273	0.24771	.	.	ENSG00000221937	ENST00000408947	T	0.00776	5.71	5.46	1.51	0.23008	.	0.298355	0.26016	U	0.026857	T	0.02418	0.0074	M	0.81239	2.535	0.09310	N	1	D	0.65815	0.995	P	0.59948	0.866	T	0.39014	-0.9634	10	0.72032	D	0.01	.	2.9603	0.05890	0.1419:0.0774:0.1482:0.6326	.	271	P59535	T2R40_HUMAN	S	271	ENSP00000386210:F271S	ENSP00000386210:F271S	F	+	2	0	TAS2R40	142630105	0.001000	0.12720	0.071000	0.20095	0.126000	0.20510	0.880000	0.28159	0.352000	0.24053	0.533000	0.62120	TTT		0.473	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			33	86	0	0	0	0	33	86				
TPD52	7163	broad.mit.edu	37	8	80954859	80954859	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:80954859A>T	ENST00000379097.3	-	5	913	c.551T>A	c.(550-552)tTa>tAa	p.L184*	TPD52_ENST00000537855.1_Nonsense_Mutation_p.L184*|TPD52_ENST00000520527.1_Nonsense_Mutation_p.L207*|TPD52_ENST00000518937.1_Nonsense_Mutation_p.L167*|TPD52_ENST00000517427.1_Nonsense_Mutation_p.L193*|TPD52_ENST00000379096.5_Nonsense_Mutation_p.L144*|TPD52_ENST00000448733.2_Nonsense_Mutation_p.L198*|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000519303.2_Nonsense_Mutation_p.L20*	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	184					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ACTTGCCTTTAAGTTTTCGAC	0.308																																						uc003ybr.1		NA																	0				ovary(1)	1						c.(550-552)TTA>TAA		tumor protein D52 isoform 1							118.0	122.0	120.0					8																	80954859		2202	4299	6501	SO:0001587	stop_gained	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80954859A>T	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.551T>A	8.37:g.80954859A>T	ENSP00000368391:p.Leu184*					TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_RNA|TPD52_uc003ybs.1_Nonsense_Mutation_p.L167*|TPD52_uc003ybt.1_Nonsense_Mutation_p.L144*|TPD52_uc003ybq.1_RNA|TPD52_uc003ybu.1_RNA	p.L184*	NM_001025252	NP_001020423	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		5	873	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	184					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Nonsense_Mutation	SNP	ENST00000379097.3	37	c.551T>A	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	A	33	5.263901	0.95399	.	.	ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000379097;ENST00000425513;ENST00000519303	.	.	.	5.11	5.11	0.69529	.	0.165132	0.41938	D	0.000797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7936	14.5302	0.67920	1.0:0.0:0.0:0.0	.	.	.	.	X	184;144;167;207;193;198;184;144;20	.	ENSP00000368390:L144X	L	-	2	0	TPD52	81117414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.881000	0.75584	2.265000	0.75225	0.482000	0.46254	TTA		0.308	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		22	67	0	0	0	0	22	67				
UBR5	51366	broad.mit.edu	37	8	103359220	103359220	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr8:103359220T>A	ENST00000520539.1	-	6	1093	c.487A>T	c.(487-489)Aca>Tca	p.T163S	UBR5_ENST00000220959.4_Missense_Mutation_p.T163S|UBR5_ENST00000521922.1_Missense_Mutation_p.T163S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	163					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCCGTCCTGTCCGAATAACT	0.567																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(487-489)ACA>TCA		ubiquitin protein ligase E3 component n-recognin							107.0	115.0	112.0					8																	103359220		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359220T>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.487A>T	8.37:g.103359220T>A	ENSP00000429084:p.Thr163Ser					UBR5_uc003yks.1_Missense_Mutation_p.T163S	p.T163S	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	520	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		163					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.487A>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499988	0.44455	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.44482	0.92;0.92;0.92	5.61	5.61	0.85477	.	0.056807	0.64402	D	0.000002	T	0.46756	0.1409	L	0.32530	0.975	0.58432	D	0.999994	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.29912	-0.9996	10	0.05436	T	0.98	.	16.0949	0.81114	0.0:0.0:0.0:1.0	.	163;163	E7EMW7;O95071	.;UBR5_HUMAN	S	163	ENSP00000429084:T163S;ENSP00000220959:T163S;ENSP00000427819:T163S	ENSP00000220959:T163S	T	-	1	0	UBR5	103428396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.260000	0.74910	0.533000	0.62120	ACA		0.567	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		24	197	0	0	0	0	24	197				
INSL4	3641	broad.mit.edu	37	9	5233770	5233770	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:5233770A>C	ENST00000239316.4	+	2	418	c.313A>C	c.(313-315)Aag>Cag	p.K105Q		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	105					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GCCATCATTGAAGAAAATAAT	0.393																																						uc003ziy.2		NA																	0					0						c.(313-315)AAG>CAG		insulin-like 4 precursor							80.0	75.0	77.0					9																	5233770		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5233770A>C		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.313A>C	9.37:g.5233770A>C	ENSP00000239316:p.Lys105Gln						p.K105Q	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	2	418	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	105					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.313A>C	CCDS6459.1	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822659	0.16678	.	.	ENSG00000120211	ENST00000239316	T	0.19669	2.13	1.64	1.64	0.23874	.	0.905720	0.08774	U	0.895741	T	0.17280	0.0415	L	0.38175	1.15	0.09310	N	1	D	0.56035	0.974	B	0.44044	0.439	T	0.17531	-1.0366	10	0.46703	T	0.11	.	5.3382	0.15969	1.0:0.0:0.0:0.0	.	105	Q14641	INSL4_HUMAN	Q	105	ENSP00000239316:K105Q	ENSP00000239316:K105Q	K	+	1	0	INSL4	5223770	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.356000	0.20181	0.999000	0.39023	0.358000	0.22013	AAG		0.393	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	NM_002195		4	66	0	0	0	0	4	66				
SPATA31A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	G	A	rs143826416	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:43625382G>A	ENST00000332857.6	-	4	3333	c.3305C>T	c.(3304-3306)cCt>cTt	p.P1102L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1102					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTGAATAGGGGGAAACAT	0.483													G|||	2248	0.448882	0.3132	0.4625	5008	,	,		13804	0.6458		0.5	False		,,,				2504	0.3671					uc011lrb.1		NA																	0					0						c.(3304-3306)CCT>CTT		hypothetical protein LOC389730							1.0	2.0	2.0					9																	43625382		372	1032	1404	SO:0001583	missense	389730					integral to membrane		g.chr9:43625382G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3305C>T	9.37:g.43625382G>A	ENSP00000329825:p.Pro1102Leu						p.P1102L	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3334	-			1102						Missense_Mutation	SNP	ENST00000332857.6	37	c.3305C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762340	0.31228	.	.	ENSG00000185775	ENST00000332857	T	0.04970	3.52	2.44	0.396	0.16309	.	1.512980	0.04100	N	0.312673	T	0.12860	0.0312	M	0.71206	2.165	0.80722	P	0.0	B	0.33044	0.395	B	0.42495	0.389	T	0.36648	-0.9739	9	0.56958	D	0.05	.	2.8448	0.05540	0.1624:0.0:0.5643:0.2733	.	1102	Q5VVP1	F75A6_HUMAN	L	1102	ENSP00000329825:P1102L	ENSP00000329825:P1102L	P	-	2	0	FAM75A6	43565378	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.063000	0.14410	0.111000	0.17947	0.383000	0.25322	CCT		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	227	0	0	0	0	7	227				
RP11-498P14.3	0	broad.mit.edu	37	9	99961655	99961655	+	lincRNA	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:99961655C>T	ENST00000416066.1	-	0	0																											TGCTTGCATTCAAGGCACTGG	0.338																																						uc004axd.1		NA																	0					0						c.(139-141)GAA>AAA		zinc finger protein 322B							115.0	177.0	157.0					9																	99961655		2024	4252	6276			387328							g.chr9:99961655C>T																													9.37:g.99961655C>T						uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	p.E47K	NM_199005	NP_945356					1	256	-		Acute lymphoblastic leukemia(62;0.158)							Missense_Mutation	SNP	ENST00000416066.1	37	c.139G>A		.	.	.	.	.	.	.	.	.	.	N	1.808	-0.475430	0.04414	.	.	ENSG00000188801	ENST00000375210	.	.	.	.	.	.	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000324	T	0.25754	0.0627	.	.	.	0.28972	N	0.889151	B	0.20887	0.049	B	0.13407	0.009	T	0.15037	-1.0451	5	.	.	.	-20.1683	5.8178	0.18506	0.0:0.999:0.0:0.001	.	47	Q5SYY0	Z322B_HUMAN	K	47	.	.	E	-	1	0	ZNF322P1	99001476	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.029000	0.13666	-0.000000	0.14550	0.000000	0.15137	GAA		0.338	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1			11	303	0	0	0	0	11	303				
PAPPA	5069	broad.mit.edu	37	9	119093591	119093591	+	Silent	SNP	C	C	T	rs371518653		TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr9:119093591C>T	ENST00000328252.3	+	11	3585	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	PAPPA_ENST00000534838.1_Silent_p.I110I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1072					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTTGCACCATCAGCTACCCAT	0.473																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(3214-3216)ATC>ATT		pregnancy-associated plasma protein A							114.0	101.0	105.0					9																	119093591		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119093591C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3216C>T	9.37:g.119093591C>T						PAPPA_uc011lxp.1_Silent_p.I767I|PAPPA_uc011lxq.1_Silent_p.I447I	p.I1072I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			11	3597	+			1072					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3216C>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	8.806	0.934143	0.18206	.	.	ENSG00000182752	ENST00000443904	.	.	.	6.06	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.1051	8.1397	0.31076	0.0:0.731:0.1303:0.1387	.	.	.	.	X	516	.	ENSP00000400477:Q516X	Q	+	1	0	PAPPA	118133412	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	0.820000	0.27323	0.856000	0.35383	0.655000	0.94253	CAG		0.473	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		26	65	0	0	0	0	26	65				
DMD	1756	broad.mit.edu	37	X	32380945	32380945	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:32380945T>C	ENST00000357033.4	-	37	5491	c.5285A>G	c.(5284-5286)cAt>cGt	p.H1762R	DMD_ENST00000378677.2_Missense_Mutation_p.H1758R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1762	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCAAATCGATGGTTGAGCTC	0.483																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5284-5286)CAT>CGT		dystrophin Dp427m isoform							223.0	168.0	187.0					X																	32380945		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380945T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5285A>G	X.37:g.32380945T>C	ENSP00000354923:p.His1762Arg					DMD_uc004dcw.2_Missense_Mutation_p.H418R|DMD_uc004dcx.2_Missense_Mutation_p.H421R|DMD_uc004dcz.2_Missense_Mutation_p.H1639R|DMD_uc004dcy.1_Missense_Mutation_p.H1758R|DMD_uc004ddb.1_Missense_Mutation_p.H1754R|DMD_uc010ngo.1_Intron	p.H1762R	NM_004006	NP_003997	P11532	DMD_HUMAN			37	5529	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1762			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5285A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	1.728	-0.494805	0.04322	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.47869	0.83;0.83	5.25	2.9	0.33743	.	0.207656	0.22832	N	0.055088	T	0.18215	0.0437	N	0.02539	-0.55	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0	T	0.05666	-1.0871	10	0.10111	T	0.7	.	8.0354	0.30488	0.0:0.171:0.0:0.829	.	1754;1762;1758;421;418	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	R	1754;421;418;1758;1762;1762;1639	ENSP00000367948:H1758R;ENSP00000354923:H1762R	ENSP00000354923:H1762R	H	-	2	0	DMD	32290866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.342000	0.52159	0.657000	0.30906	0.441000	0.28932	CAT		0.483	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		30	103	0	0	0	0	30	103				
ZXDA	7789	broad.mit.edu	37	X	57935933	57935933	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:57935933C>T	ENST00000358697.4	-	1	1134	c.922G>A	c.(922-924)Ggc>Agc	p.G308S		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	308	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AAGGTCCAGCCGCAGCCACCC	0.627																																						uc004dve.2		NA																	0				ovary(1)	1						c.(922-924)GGC>AGC		zinc finger, X-linked, duplicated A							16.0	17.0	16.0					X																	57935933		2202	4290	6492	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935933C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.922G>A	X.37:g.57935933C>T	ENSP00000351530:p.Gly308Ser						p.G308S	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1135	-			308			Required for interaction with ZXDC.|C2H2-type 2.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.922G>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	14.19	2.460657	0.43736	.	.	ENSG00000198205	ENST00000358697	T	0.58358	0.34	3.35	1.54	0.23209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054762	0.64402	D	0.000001	T	0.41166	0.1147	L	0.45228	1.405	0.39447	D	0.967336	P	0.44281	0.831	B	0.43413	0.419	T	0.17653	-1.0362	9	.	.	.	.	5.4166	0.16378	0.1978:0.6839:0.0:0.1183	.	308	P98168	ZXDA_HUMAN	S	308	ENSP00000351530:G308S	.	G	-	1	0	ZXDA	57952658	0.580000	0.26733	0.723000	0.30687	0.435000	0.31806	1.529000	0.35996	0.276000	0.22118	-0.440000	0.05779	GGC		0.627	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		7	24	0	0	0	0	7	24				
COL4A6	1288	broad.mit.edu	37	X	107417817	107417817	+	Silent	SNP	T	T	C			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:107417817T>C	ENST00000372216.4	-	31	3094	c.2994A>G	c.(2992-2994)ccA>ccG	p.P998P	COL4A6_ENST00000545689.1_Silent_p.P997P|COL4A6_ENST00000394872.2_Silent_p.P998P|COL4A6_ENST00000538570.1_Silent_p.P997P|COL4A6_ENST00000334504.7_Silent_p.P997P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	998	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGTAGGCCTGGTGGTCCAG	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(2992-2994)CCA>CCG		type IV alpha 6 collagen isoform A precursor							26.0	29.0	28.0					X																	107417817		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417817T>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2994A>G	X.37:g.107417817T>C						COL4A6_uc004env.3_Silent_p.P997P|COL4A6_uc011msn.1_Silent_p.P997P|COL4A6_uc010npk.2_Silent_p.P997P	p.P998P	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			31	3097	-			998			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.2994A>G	CCDS14541.1																																																																																				0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			17	45	0	0	0	0	17	45				
ZNF449	203523	broad.mit.edu	37	X	134483215	134483215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:134483215G>T	ENST00000339249.4	+	3	675	c.535G>T	c.(535-537)Gaa>Taa	p.E179*		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	179					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(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTACTGGAGAATGTCAGAA	0.537																																						uc004eys.2		NA																	0				ovary(2)	2						c.(535-537)GAA>TAA		zinc finger protein 449							143.0	126.0	132.0					X																	134483215		2203	4300	6503	SO:0001587	stop_gained	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134483215G>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.535G>T	X.37:g.134483215G>T	ENSP00000339585:p.Glu179*					ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.2_Nonsense_Mutation_p.E59*	p.E179*	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			3	700	+	Acute lymphoblastic leukemia(192;6.56e-05)		179					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Nonsense_Mutation	SNP	ENST00000339249.4	37	c.535G>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916361	0.52546	.	.	ENSG00000173275	ENST00000339249	.	.	.	4.43	3.54	0.40534	.	0.544776	0.15301	N	0.269657	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	9.2343	0.37457	0.0:0.2145:0.7855:0.0	.	.	.	.	X	179	.	ENSP00000339585:E179X	E	+	1	0	ZNF449	134310881	0.204000	0.23447	0.009000	0.14445	0.271000	0.26615	1.515000	0.35845	1.191000	0.43056	0.600000	0.82982	GAA		0.537	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		10	99	1	0	7.48e-07	8.31e-07	10	99				
SLC9A6	10479	broad.mit.edu	37	X	135106627	135106627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:135106627C>T	ENST00000370698.3	+	12	1540	c.1505C>T	c.(1504-1506)tCa>tTa	p.S502L	SLC9A6_ENST00000370701.1_Missense_Mutation_p.S482L|SLC9A6_ENST00000370695.4_Missense_Mutation_p.S534L	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	502					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCAATGCTGTCATGCTTGCAT	0.378																																						uc004ezj.2		NA																	0				ovary(1)	1						c.(1504-1506)TCA>TTA		solute carrier family 9 (sodium/hydrogen							263.0	195.0	218.0					X																	135106627		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106627C>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1505C>T	X.37:g.135106627C>T	ENSP00000359732:p.Ser502Leu					SLC9A6_uc004ezk.2_Missense_Mutation_p.S534L	p.S502L	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			12	1581	+	Acute lymphoblastic leukemia(192;0.000127)		502			Helical; (Potential).		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1505C>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577216	0.65878	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.21932	1.98;1.98;1.98	5.36	5.36	0.76844	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	L	0.58354	1.805	0.80722	D	1	B;B	0.20052	0.018;0.041	B;B	0.24155	0.037;0.051	T	0.03268	-1.1054	10	0.54805	T	0.06	.	16.6025	0.84819	0.0:1.0:0.0:0.0	.	534;502	Q92581-2;Q92581	.;SL9A6_HUMAN	L	482;502;534	ENSP00000359735:S482L;ENSP00000359732:S502L;ENSP00000359729:S534L	ENSP00000359729:S534L	S	+	2	0	SLC9A6	134934293	1.000000	0.71417	0.921000	0.36526	0.892000	0.51952	7.487000	0.81328	2.227000	0.72691	0.506000	0.49869	TCA		0.378	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		19	119	0	0	0	0	19	119				
TREX2	11219	broad.mit.edu	37	X	152710829	152710829	+	Silent	SNP	G	G	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:152710829G>A	ENST00000334497.2	-	11	1330	c.189C>T	c.(187-189)ctC>ctT	p.L63L	TREX2_ENST00000370232.1_Silent_p.L63L|TREX2_ENST00000414588.1_Silent_p.L62L|TREX2_ENST00000370231.2_Silent_p.L20L|TREX2_ENST00000402951.1_Silent_p.L63L|TREX2_ENST00000393862.2_Silent_p.L20L|TREX2_ENST00000338525.2_Silent_p.L20L|TREX2_ENST00000330912.2_Silent_p.L20L|HAUS7_ENST00000484394.1_5'Flank			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	63					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACACTGGGGAGCCCAGTGG	0.622								Editing and processing nucleases																														uc010nue.1		NA																	0				large_intestine(1)	1						c.(184-186)CTC>CTT	Editing_and_processing_nucleases	three prime repair exonuclease 2							22.0	25.0	24.0					X																	152710829		2184	4283	6467	SO:0001819	synonymous_variant	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710829G>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.189C>T	X.37:g.152710829G>A						TREX2_uc010nud.1_Silent_p.L20L|TREX2_uc011myp.1_Silent_p.L20L|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	p.L62L	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN			3	302	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		63					Q45F08|Q9UN77	Silent	SNP	ENST00000334497.2	37	c.186C>T																																																																																					0.622	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		5	6	0	0	0	0	5	6				
FAM3A	60343	broad.mit.edu	37	X	153740200	153740200	+	Silent	SNP	T	T	A			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chrX:153740200T>A	ENST00000447601.2	-	3	598	c.132A>T	c.(130-132)ccA>ccT	p.P44P	FAM3A_ENST00000359889.5_Silent_p.P44P|FAM3A_ENST00000369643.1_Silent_p.P44P|FAM3A_ENST00000393572.1_Silent_p.P6P|FAM3A_ENST00000369641.3_Silent_p.P44P|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000434658.2_Silent_p.P44P	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	44						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGAGCTCTCTGGACCTGTGG	0.632											OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fls.1		NA																	0				large_intestine(1)	1						c.(130-132)CCA>CCT		family 3, member A protein precursor							118.0	79.0	92.0					X																	153740200		2203	4300	6503	SO:0001819	synonymous_variant	60343					extracellular region		g.chrX:153740200T>A	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.132A>T	X.37:g.153740200T>A			OREG0003614	type=REGULATORY REGION|Gene=FAM3A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757	FAM3A_uc004flt.1_Silent_p.P58P|FAM3A_uc011mzp.1_Silent_p.P44P|FAM3A_uc004flu.1_Silent_p.P58P|FAM3A_uc011mzq.1_Silent_p.P44P|FAM3A_uc004flw.1_Silent_p.P44P	p.P44P	NM_021806	NP_068578	P98173	FAM3A_HUMAN			3	409	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		44					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Silent	SNP	ENST00000447601.2	37	c.132A>T	CCDS35453.1																																																																																				0.632	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			12	36	0	0	0	0	12	36				
EPHA2	1969	broad.mit.edu	37	1	16475205	16475210	+	In_Frame_Del	DEL	TTCAGC	TTCAGC	-	rs146626026	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:16475205_16475210delTTCAGC	ENST00000358432.5	-	3	640_645	c.486_491delGCTGAA	c.(484-492)aagctgaac>aac	p.KL162del	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	162	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTCCTCCACGTTCAGCTTCACGTGGC	0.612																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(484-492)AAGCTGAAC>AAC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)																																			SO:0001651	inframe_deletion	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475205_16475210delTTCAGC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.486_491delGCTGAA	1.37:g.16475205_16475210delTTCAGC	ENSP00000351209:p.Lys162_Leu163del					EPHA2_uc010oca.1_In_Frame_Del_p.KL162del	p.KL162del	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	623_628	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	162_163			Extracellular (Potential).		B5A968|Q8N3Z2	In_Frame_Del	DEL	ENST00000358432.5	37	c.486_491delGCTGAA	CCDS169.1																																																																																				0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		25	48	NA	NA	NA	NA	25	48	---	---	---	---
KHDRBS1	10657	broad.mit.edu	37	1	32498892	32498892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr1:32498892delT	ENST00000327300.7	+	4	895	c.728delT	c.(727-729)cttfs	p.L243fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.L204fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTATGCTCTTATGGCCCAT	0.458																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2		NA																	0				ovary(1)	1						c.(727-729)CTTfs		KH domain containing, RNA binding, signal							126.0	120.0	122.0					1																	32498892		2203	4300	6503	SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32498892delT	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.728delT	1.37:g.32498892delT	ENSP00000313829:p.Leu243fs					KHDRBS1_uc001bua.1_Frame_Shift_Del_p.L204fs|KHDRBS1_uc001buc.1_RNA	p.L243fs	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			4	834	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	243						Frame_Shift_Del	DEL	ENST00000327300.7	37	c.728delT	CCDS350.1																																																																																				0.458	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		32	80	NA	NA	NA	NA	32	80	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(868-873)ACCAGC>AGC		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_uc001mak.1_Intron	p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	955_957	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290					Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		7	186	NA	NA	NA	NA	7	186	---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8158952	8158953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr11:8158952_8158953insT	ENST00000309737.6	-	4	492_493	c.493_494insA	c.(493-495)atcfs	p.I165fs	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Frame_Shift_Ins_p.I116fs|RIC3_ENST00000343202.4_Frame_Shift_Ins_p.I165fs|RIC3_ENST00000425599.2_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	165				I -> F (in Ref. 8; AAH22455). {ECO:0000305}.	cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CACTCTGTTGATTAATTTTTCC	0.411																																						uc001mgd.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(493-495)ATCfs		resistance to inhibitors of cholinesterase 3																																				SO:0001589	frameshift_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8158952_8158953insT		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.494dupA	11.37:g.8158954_8158954dupT	ENSP00000308820:p.Ile165fs					RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Frame_Shift_Ins_p.I165fs|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Frame_Shift_Ins_p.I115fs|RIC3_uc010rbm.1_Frame_Shift_Ins_p.I165fs|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron	p.I165fs	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	4	547_548	-			165	I -> F (in Ref. 6; AAH22455).		Potential.|Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Ins	INS	ENST00000309737.6	37	c.493_494insA	CCDS55742.1																																																																																				0.411	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		7	166	NA	NA	NA	NA	7	166	---	---	---	---
SPSB2	84727	broad.mit.edu	37	12	6981568	6981569	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr12:6981568_6981569delTC	ENST00000524270.1	-	2	683_684	c.497_498delGA	c.(496-498)agafs	p.R166fs	RPL13P5_ENST00000412023.1_RNA|LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000519357.1_Frame_Shift_Del_p.R166fs|SPSB2_ENST00000523102.1_Frame_Shift_Del_p.R166fs	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	166	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCACCAGCAGTCTCTCTGGCAC	0.644											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrl.2		NA																	0				kidney(1)	1						c.(496-498)AGAfs		splA/ryanodine receptor domain and SOCS box																																				SO:0001589	frameshift_variant	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981568_6981569delTC	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.497_498delGA	12.37:g.6981572_6981573delTC	ENSP00000428338:p.Arg166fs		OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_uc001qrm.2_Frame_Shift_Del_p.R166fs|SPSB2_uc010sfp.1_Frame_Shift_Del_p.R166fs|LRRC23_uc001qrn.1_5'Flank	p.R166fs	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN			2	653_654	-			166			B30.2/SPRY.		B7Z4W1|D3DUT0	Frame_Shift_Del	DEL	ENST00000524270.1	37	c.497_498delGA	CCDS8567.1																																																																																				0.644	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		31	77	NA	NA	NA	NA	31	77	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75230471	75230471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr14:75230471delG	ENST00000552421.1	+	1	403	c.279delG	c.(277-279)ccgfs	p.P93fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.P93fs|YLPM1_ENST00000325680.7_Frame_Shift_Del_p.P93fs			P49750	YLPM1_HUMAN	YLP motif containing 1	93	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAGTGATGCCGGGGGGCGGCT	0.682																																						uc001xqj.3		NA																	0				ovary(2)|pancreas(1)	3						c.(277-279)CCGfs		YLP motif containing 1				18,3368		1,16,1676	16.0	20.0	19.0			4.9	1.0	14		19	33,7547		6,21,3763	no	frameshift	YLPM1	NM_019589.2		7,37,5439	A1A1,A1R,RR		0.4354,0.5316,0.4651			75230471	51,10915	1815	4029	5844	SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230471delG	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.279delG	14.37:g.75230471delG	ENSP00000447921:p.Pro93fs						p.P93fs	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	403	+			93			Pro-rich.		P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37	c.279delG																																																																																					0.682	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		7	38	NA	NA	NA	NA	7	38	---	---	---	---
GGCX	2677	broad.mit.edu	37	2	85779683	85779683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:85779683delG	ENST00000233838.4	-	10	1375	c.1295delC	c.(1294-1296)acafs	p.T432fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.T375fs|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	432					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	CCGACTCTGTGTAAATACCTG	0.512											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sps.2		NA																	0				ovary(1)	1						c.(1294-1296)ACAfs		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						141.0	135.0	137.0					2																	85779683		2203	4300	6503	SO:0001589	frameshift_variant	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779683delG		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1295delC	2.37:g.85779683delG	ENSP00000233838:p.Thr432fs		OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_uc010yss.1_Frame_Shift_Del_p.T271fs|GGCX_uc010yst.1_Frame_Shift_Del_p.T375fs	p.T432fs	NM_000821	NP_000812	P38435	VKGC_HUMAN			10	1401	-			432			Lumenal (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Frame_Shift_Del	DEL	ENST00000233838.4	37	c.1295delC	CCDS1978.1																																																																																				0.512	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		53	174	NA	NA	NA	NA	53	174	---	---	---	---
NCL	4691	broad.mit.edu	37	2	232326268	232326285	+	In_Frame_Del	DEL	TCGTCATCCTCATCATCT	TCGTCATCCTCATCATCT	-	rs564704756|rs201218992|rs572420764|rs61754968	byFrequency	TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr2:232326268_232326285delTCGTCATCCTCATCATCT	ENST00000322723.4	-	3	819_836	c.579_596delAGATGATGAGGATGACGA	c.(577-597)gaagatgatgaggatgacgat>gat	p.EDDEDD193del	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	193	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ctcatcgtcatcgtcatcctcatcatcttcgtcatcct	0.482																																						uc002vru.2		NA																	0				ovary(2)|pancreas(1)	3						c.(577-597)GAAGATGATGAGGATGACGAT>GAT		nucleolin																																				SO:0001651	inframe_deletion	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326268_232326285delTCGTCATCCTCATCATCT		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.579_596delAGATGATGAGGATGACGA	2.37:g.232326268_232326285delTCGTCATCCTCATCATCT	ENSP00000318195:p.Glu193_Asp198del					SNORD82_uc010fxw.1_5'Flank	p.EDDEDD193del	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	720_737	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	193_198			Asp/Glu-rich (acidic).		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	ENST00000322723.4	37	c.579_596delAGATGATGAGGATGACGA	CCDS33397.1																																																																																				0.482	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		21	85	NA	NA	NA	NA	21	85	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7438-01A-21D-2129-08	TCGA-CV-7438-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6fd3ecf3-c87c-46c3-81f0-11e2f8936d61	5325b2e0-579a-4463-bf95-a1e6da6b0a33	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1108-1110)ATTfs		peroxin1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I370fs	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1204	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		7	156	NA	NA	NA	NA	7	156	---	---	---	---
