#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
CROCC	9696	broad.mit.edu	37	1	17256382	17256382	+	Silent	SNP	G	G	T	rs369720716		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:17256382G>T	ENST00000375541.5	+	4	462	c.393G>T	c.(391-393)acG>acT	p.T131T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCTGGAGACGCAGGAGCCCA	0.697																																						uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(391-393)ACG>ACT		ciliary rootlet coiled-coil							8.0	9.0	9.0					1																	17256382		2155	4213	6368	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17256382G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.393G>T	1.37:g.17256382G>T						CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_5'UTR	p.T131T	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	4	462	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	131			Potential.			Silent	SNP	ENST00000375541.5	37	c.393G>T	CCDS30616.1																																																																																				0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	5	1	0	0.00307968	0.00324987	7	5				
PAFAH2	5051	broad.mit.edu	37	1	26301058	26301058	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:26301058T>G	ENST00000374282.3	-	9	1021	c.842A>C	c.(841-843)aAt>aCt	p.N281T	PAFAH2_ENST00000374284.1_Missense_Mutation_p.N281T	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	281					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAGTATTGATAAAGAA	0.468																																						uc001bld.3		NA																	0				ovary(2)	2						c.(841-843)AAT>ACT		platelet-activating factor acetylhydrolase 2							107.0	99.0	102.0					1																	26301058		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26301058T>G	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.842A>C	1.37:g.26301058T>G	ENSP00000363400:p.Asn281Thr					PAFAH2_uc001ble.3_Missense_Mutation_p.N281T	p.N281T	NM_000437	NP_000428	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	9	1022	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	281					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.842A>C	CCDS270.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465439	0.84425	.	.	ENSG00000158006	ENST00000374282;ENST00000374284	T;T	0.40756	1.02;1.02	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.59891	0.2227	L	0.59436	1.845	0.49582	D	0.9998	D	0.76494	0.999	D	0.85130	0.997	T	0.56056	-0.8042	10	0.30078	T	0.28	-16.3354	15.0208	0.71630	0.0:0.0:0.0:1.0	.	281	Q99487	PAFA2_HUMAN	T	281	ENSP00000363400:N281T;ENSP00000363402:N281T	ENSP00000363400:N281T	N	-	2	0	PAFAH2	26173645	1.000000	0.71417	0.919000	0.36401	0.918000	0.54935	6.245000	0.72398	2.192000	0.70111	0.529000	0.55759	AAT		0.468	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		19	15	0	0	0	0	19	15				
ARID1A	8289	broad.mit.edu	37	1	27089635	27089635	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:27089635G>T	ENST00000324856.7	+	8	2962	c.2591G>T	c.(2590-2592)gGc>gTc	p.G864V	ARID1A_ENST00000374152.2_Missense_Mutation_p.G481V|ARID1A_ENST00000457599.2_Missense_Mutation_p.G864V|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	864					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTCCATGGGCAACCGGCCT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2590-2592)GGC>GTC		AT rich interactive domain 1A isoform a							80.0	67.0	71.0					1																	27089635		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27089635G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2591G>T	1.37:g.27089635G>T	ENSP00000320485:p.Gly864Val					ARID1A_uc001bmt.1_Missense_Mutation_p.G864V|ARID1A_uc001bmu.1_Missense_Mutation_p.G864V|ARID1A_uc001bmw.1_Missense_Mutation_p.G481V	p.G864V	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	8	2964	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	864					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2591G>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667903	0.67814	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03212	4.22;4.01;4.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.00011	-1.2443	10	0.46703	T	0.11	-10.0287	19.9142	0.97043	0.0:0.0:1.0:0.0	.	864;864;518	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	864;864;481	ENSP00000320485:G864V;ENSP00000387636:G864V;ENSP00000363267:G481V	ENSP00000320485:G864V	G	+	2	0	ARID1A	26962222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.235000	0.95353	2.941000	0.99782	0.655000	0.94253	GGC		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		24	23	1	0	3.29e-13	3.79e-13	24	23				
CLCA2	9635	broad.mit.edu	37	1	86913313	86913313	+	Silent	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:86913313A>G	ENST00000370565.4	+	11	1998	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	612					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTTTGTGGAAAGAGACAGCC	0.493																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1834-1836)GAA>GAG		chloride channel accessory 2 precursor							144.0	137.0	140.0					1																	86913313		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86913313A>G		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1836A>G	1.37:g.86913313A>G							p.E612E	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	11	1998	+		Lung NSC(277;0.238)	612			Extracellular (Potential).		A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.1836A>G	CCDS708.1																																																																																				0.493	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		55	108	0	0	0	0	55	108				
AGL	178	broad.mit.edu	37	1	100358058	100358058	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:100358058A>G	ENST00000294724.4	+	24	3632	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	AGL_ENST00000361522.4_Missense_Mutation_p.K1035E|AGL_ENST00000361302.3_Missense_Mutation_p.K1036E|AGL_ENST00000370163.3_Missense_Mutation_p.K1052E|AGL_ENST00000361915.3_Missense_Mutation_p.K1052E|AGL_ENST00000370165.3_Missense_Mutation_p.K1052E|AGL_ENST00000370161.2_Missense_Mutation_p.K1036E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1052					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGTAGGAAAATTCCCTTC	0.378																																						uc001dsi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3154-3156)AAA>GAA		amylo-1,6-glucosidase,							111.0	105.0	107.0					1																	100358058		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100358058A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3154A>G	1.37:g.100358058A>G	ENSP00000294724:p.Lys1052Glu					AGL_uc001dsj.1_Missense_Mutation_p.K1052E|AGL_uc001dsk.1_Missense_Mutation_p.K1052E|AGL_uc001dsl.1_Missense_Mutation_p.K1052E|AGL_uc001dsm.1_Missense_Mutation_p.K1036E|AGL_uc001dsn.1_Missense_Mutation_p.K1035E	p.K1052E	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	24	3554	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1052			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3154A>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035744	0.54896	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.2	5.2	0.72013	.	0.239362	0.42682	D	0.000678	T	0.65964	0.2742	M	0.75264	2.295	0.43149	D	0.994912	B;B;B	0.22683	0.073;0.073;0.027	B;B;B	0.27715	0.049;0.049;0.082	T	0.67369	-0.5688	10	0.38643	T	0.18	.	15.3636	0.74503	1.0:0.0:0.0:0.0	.	1035;1036;1052	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	E	1052;1052;1052;1052;1036;1036;1035	ENSP00000355106:K1052E;ENSP00000359184:K1052E;ENSP00000359182:K1052E;ENSP00000294724:K1052E;ENSP00000354971:K1036E;ENSP00000359180:K1036E;ENSP00000354635:K1035E	ENSP00000294724:K1052E	K	+	1	0	AGL	100130646	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.350000	0.73017	2.065000	0.61736	0.467000	0.42956	AAA		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		29	47	0	0	0	0	29	47				
LINGO4	339398	broad.mit.edu	37	1	151774779	151774779	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:151774779C>T	ENST00000368820.3	-	2	1339	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	134						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCAGGGTCAGAGCAGAGA	0.597																																						uc001ezf.1		NA																	0				large_intestine(1)	1						c.(400-402)CTG>CTA		leucine rich repeat and Ig domain containing 4							76.0	81.0	79.0					1																	151774779		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774779C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.402G>A	1.37:g.151774779C>T							p.L134L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	592	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		134			Extracellular (Potential).|LRR 4.			Silent	SNP	ENST00000368820.3	37	c.402G>A	CCDS30855.1																																																																																				0.597	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		92	76	0	0	0	0	92	76				
CD1A	909	broad.mit.edu	37	1	158226702	158226702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:158226702A>T	ENST00000289429.5	+	4	1264	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	244	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAGCAGGAGCAGCAGGGCACT	0.642																																						uc001frt.2		NA																	0				pancreas(2)|skin(1)	3						c.(730-732)CAG>CTG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						108.0	98.0	101.0					1																	158226702		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226702A>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.731A>T	1.37:g.158226702A>T	ENSP00000289429:p.Gln244Leu						p.Q244L	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1264	+	all_hematologic(112;0.0378)		244			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.731A>T	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419330	0.25552	.	.	ENSG00000158477	ENST00000289429	T	0.02890	4.12	3.8	2.63	0.31362	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.184484	0.26677	N	0.023066	T	0.01189	0.0039	L	0.42008	1.315	0.23346	N	0.997865	P	0.36392	0.551	B	0.38500	0.275	T	0.46596	-0.9180	10	0.59425	D	0.04	-4.6564	6.421	0.21744	0.7823:0.0:0.0:0.2177	.	244	P06126	CD1A_HUMAN	L	244	ENSP00000289429:Q244L	ENSP00000289429:Q244L	Q	+	2	0	CD1A	156493326	0.233000	0.23772	0.556000	0.28293	0.442000	0.32017	0.571000	0.23669	0.614000	0.30107	0.397000	0.26171	CAG		0.642	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		39	80	0	0	0	0	39	80				
KCNJ9	3765	broad.mit.edu	37	1	160054148	160054148	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:160054148G>C	ENST00000368088.3	+	2	570	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	110					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTGGCCGCCTTCCTCTT	0.677																																						uc001fuy.1		NA																	0				ovary(1)|skin(1)	2						c.(328-330)GCC>CCC		potassium inwardly-rectifying channel subfamily							49.0	43.0	45.0					1																	160054148		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054148G>C	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.328G>C	1.37:g.160054148G>C	ENSP00000357067:p.Ala110Pro						p.A110P	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	570	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		110					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.328G>C	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075509	0.94000	.	.	ENSG00000162728	ENST00000368088	D	0.97455	-4.39	4.77	4.77	0.60923	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99647	1.0990	10	0.87932	D	0	.	16.5815	0.84716	0.0:0.0:1.0:0.0	.	110	Q92806	IRK9_HUMAN	P	110	ENSP00000357067:A110P	ENSP00000357067:A110P	A	+	1	0	KCNJ9	158320772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.630000	0.98420	2.186000	0.69663	0.484000	0.47621	GCC		0.677	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		24	39	0	0	0	0	24	39				
RYR2	6262	broad.mit.edu	37	1	237949308	237949308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:237949308G>C	ENST00000366574.2	+	91	13617	c.13300G>C	c.(13300-13302)Gaa>Caa	p.E4434Q	RYR2_ENST00000542537.1_Missense_Mutation_p.E4418Q|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E4440Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4434	Glu-rich (acidic).				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			agaaaaagaagaaACCAAATC	0.358																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13300-13302)GAA>CAA		cardiac muscle ryanodine receptor							116.0	120.0	119.0					1																	237949308		1828	4094	5922	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237949308G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13300G>C	1.37:g.237949308G>C	ENSP00000355533:p.Glu4434Gln					RYR2_uc010pya.1_Missense_Mutation_p.E849Q	p.E4434Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		91	13420	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4434			Potential.|Glu-rich (acidic).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13300G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697010	0.68386	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93859	-3.3;-3.3;-3.3	4.93	4.93	0.64822	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	D	0.000009	D	0.90714	0.7086	L	0.42245	1.32	0.80722	D	1	P;P	0.48089	0.905;0.905	P;P	0.44772	0.46;0.46	D	0.88843	0.3314	10	0.21540	T	0.41	-6.3732	15.2146	0.73254	0.0:0.0:1.0:0.0	.	1408;4434	B4DGV4;Q92736	.;RYR2_HUMAN	Q	4434;4440;4418;1408	ENSP00000355533:E4434Q;ENSP00000353174:E4440Q;ENSP00000443798:E4418Q	ENSP00000353174:E4440Q	E	+	1	0	RYR2	236015931	1.000000	0.71417	0.984000	0.44739	0.936000	0.57629	4.790000	0.62453	2.422000	0.82143	0.655000	0.94253	GAA		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	3	0	0	0	0	3	3				
OR2T12	127064	broad.mit.edu	37	1	248458473	248458473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr1:248458473C>T	ENST00000317996.1	-	1	407	c.408G>A	c.(406-408)tgG>tgA	p.W136*		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGCACAGCTGCCAGCTCATGA	0.607																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(406-408)TGG>TGA		olfactory receptor, family 2, subfamily T,							23.0	26.0	25.0					1																	248458473		2181	4281	6462	SO:0001587	stop_gained	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458473C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.408G>A	1.37:g.248458473C>T	ENSP00000324583:p.Trp136*						p.W136*	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	408	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		136			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000317996.1	37	c.408G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.844048	0.32606	.	.	ENSG00000177201	ENST00000317996	.	.	.	1.55	-1.56	0.08532	.	1.087340	0.07297	U	0.873535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	2.5452	0.04736	0.1573:0.2423:0.4569:0.1435	.	.	.	.	X	136	.	ENSP00000324583:W136X	W	-	3	0	OR2T12	246525096	0.000000	0.05858	0.004000	0.12327	0.235000	0.25334	-3.575000	0.00426	-0.310000	0.08766	0.175000	0.17021	TGG		0.607	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		29	44	0	0	0	0	29	44				
FAM178A	55719	broad.mit.edu	37	10	102684308	102684308	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:102684308A>G	ENST00000238961.4	+	5	2092	c.1550A>G	c.(1549-1551)gAa>gGa	p.E517G	FAM178A_ENST00000370269.3_Missense_Mutation_p.E517G|FAM178A_ENST00000370271.3_Missense_Mutation_p.E517G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	517						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CATTCTACAGAATCCACCAAA	0.393																																						uc001krt.3		NA																	0					0						c.(1549-1551)GAA>GGA		hypothetical protein LOC55719 isoform 1							89.0	92.0	91.0					10																	102684308		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102684308A>G	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1550A>G	10.37:g.102684308A>G	ENSP00000238961:p.Glu517Gly					FAM178A_uc001krr.1_Missense_Mutation_p.E517G|FAM178A_uc001krs.2_Missense_Mutation_p.E517G|FAM178A_uc001kru.1_Missense_Mutation_p.E452G	p.E517G	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			5	2092	+			517					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1550A>G	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289651	0.40494	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.51071	0.72;1.36;1.35	6.03	3.4	0.38934	.	0.000000	0.52532	D	0.000062	T	0.41351	0.1155	L	0.27053	0.805	0.36049	D	0.840606	P;P;P;P	0.50272	0.933;0.779;0.779;0.933	P;B;B;P	0.49829	0.623;0.367;0.367;0.623	T	0.53401	-0.8444	10	0.72032	D	0.01	-9.6857	9.1649	0.37046	0.6946:0.0:0.0:0.3054	.	166;517;517;517	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	G	517	ENSP00000359294:E517G;ENSP00000238961:E517G;ENSP00000359292:E517G	ENSP00000238961:E517G	E	+	2	0	FAM178A	102674298	0.991000	0.36638	0.998000	0.56505	0.804000	0.45430	1.525000	0.35953	1.062000	0.40625	0.533000	0.62120	GAA		0.393	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			58	88	0	0	0	0	58	88				
SORCS1	114815	broad.mit.edu	37	10	108371726	108371726	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:108371726C>T	ENST00000263054.6	-	22	2983	c.2976G>A	c.(2974-2976)ccG>ccA	p.P992P	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Silent_p.P992P|SORCS1_ENST00000369698.1_Silent_p.P527P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	992					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAGGGATGTCCGGGTTGTAGT	0.483																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2974-2976)CCG>CCA		SORCS receptor 1 isoform a							115.0	103.0	107.0					10																	108371726		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108371726C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2976G>A	10.37:g.108371726C>T						SORCS1_uc001kyl.2_Silent_p.P992P|SORCS1_uc009xxs.2_Silent_p.P992P|SORCS1_uc001kyn.1_Silent_p.P992P|SORCS1_uc001kyo.2_Silent_p.P992P	p.P992P	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	22	2984	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	992			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.2976G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763507	0.15914	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	-16.6406	3.9602	0.09407	0.2439:0.4444:0.1511:0.1606	.	.	.	.	Q	7	.	.	R	-	2	0	SORCS1	108361716	0.000000	0.05858	0.060000	0.19600	0.980000	0.70556	-5.328000	0.00131	-3.786000	0.00107	-1.004000	0.02495	CGG		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		27	52	0	0	0	0	27	52				
FAM160B1	57700	broad.mit.edu	37	10	116590627	116590627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr10:116590627C>G	ENST00000369248.4	+	2	397	c.62C>G	c.(61-63)cCt>cGt	p.P21R	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P21R|FAM160B1_ENST00000369246.1_Missense_Mutation_p.P21R	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	21										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CCTTCTCTTCCTTTACAAGAA	0.318																																						uc001lcb.2		NA																	0				lung(1)	1						c.(61-63)CCT>CGT		hypothetical protein LOC57700 isoform a							155.0	142.0	146.0					10																	116590627		2203	4298	6501	SO:0001583	missense	57700							g.chr10:116590627C>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.62C>G	10.37:g.116590627C>G	ENSP00000358251:p.Pro21Arg					FAM160B1_uc001lcc.2_Missense_Mutation_p.P21R	p.P21R	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			2	397	+			21					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.62C>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270049	0.80469	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	T;T	0.15603	2.44;2.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.68621	0.923;0.959	T	0.19386	-1.0307	10	0.56958	D	0.05	-16.3417	17.639	0.88130	0.0:1.0:0.0:0.0	.	21;21	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	R	21	ENSP00000358251:P21R;ENSP00000358253:P21R	ENSP00000358249:P21R	P	+	2	0	FAM160B1	116580617	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.670000	0.83925	2.159000	0.67721	0.462000	0.41574	CCT		0.318	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		27	52	0	0	0	0	27	52				
ZNF214	7761	broad.mit.edu	37	11	7021319	7021319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:7021319C>T	ENST00000278314.4	-	3	1910	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G532E	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAAACCCTTTCCACAATCATG	0.413																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	0				skin(1)	1						c.(1594-1596)GGA>GAA		zinc finger protein 214							130.0	132.0	132.0					11																	7021319		2201	4295	6496	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021319C>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1595G>A	11.37:g.7021319C>T	ENSP00000278314:p.Gly532Glu					ZNF214_uc010ray.1_Missense_Mutation_p.G532E|ZNF214_uc009yfh.1_Missense_Mutation_p.G532E	p.G532E	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1898	-			532			C2H2-type 10.		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1595G>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101918	0.56183	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.58210	0.35;0.35	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000890	T	0.61714	0.2369	L	0.38838	1.175	0.34362	D	0.691081	D	0.76494	0.999	D	0.74023	0.982	T	0.70015	-0.4988	10	0.49607	T	0.09	.	14.7528	0.69540	0.0:1.0:0.0:0.0	.	532	Q9UL59	ZN214_HUMAN	E	532	ENSP00000278314:G532E;ENSP00000445373:G532E	ENSP00000278314:G532E	G	-	2	0	ZNF214	6977895	0.989000	0.36119	0.999000	0.59377	0.922000	0.55478	2.200000	0.42724	2.607000	0.88179	0.561000	0.74099	GGA		0.413	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			34	36	0	0	0	0	34	36				
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000532814.1_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						uc001mlf.3		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(1)	1						c.(214-216)CAA>CTA		related RAS viral (r-ras) oncogene homolog 2							116.0	118.0	117.0					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu					RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.Q78L	p.Q72L	NM_012250	NP_036382	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-			72		Q -> L (in an ovarian cancer sample; somatic mutation).	GTP (By similarity).		B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.215A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		59	47	0	0	0	0	59	47				
IGHMBP2	3508	broad.mit.edu	37	11	68696742	68696742	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:68696742C>T	ENST00000255078.3	+	8	1263	c.1152C>T	c.(1150-1152)agC>agT	p.S384S		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	384	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCGAGGCGAGCTGCTGGATCC	0.622																																						uc001ook.1		NA																	0					0						c.(1150-1152)AGC>AGT		immunoglobulin mu binding protein 2							103.0	93.0	97.0					11																	68696742		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696742C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1152C>T	11.37:g.68696742C>T						IGHMBP2_uc001ooj.1_RNA|IGHMBP2_uc001ool.1_5'Flank	p.S384S	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1254	+			384			Leu-rich.		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1152C>T	CCDS8187.1																																																																																				0.622	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		64	112	0	0	0	0	64	112				
DLG2	1740	broad.mit.edu	37	11	84996292	84996292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:84996292C>T	ENST00000376104.2	-	4	469	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	DLG2_ENST00000543673.1_Missense_Mutation_p.C53Y	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTGTCATGGCACGGAGCAAG	0.383																																						uc001pak.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(157-159)TGC>TAC		chapsyn-110 isoform 1							222.0	198.0	205.0					11																	84996292		1568	3581	5149	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:84996292C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.158G>A	11.37:g.84996292C>T	ENSP00000365272:p.Cys53Tyr						p.C53Y	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN			4	470	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	Error:Variant_position_missing_in_Q15700_after_alignment					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000376104.2	37	c.158G>A	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	C	3.566	-0.088737	0.07097	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.12039	2.72;2.72	5.77	1.32	0.21799	.	0.696409	0.13032	N	0.419214	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.41875	-0.9484	9	.	.	.	.	7.7311	0.28788	0.0:0.4986:0.2597:0.2417	.	53	Q15700-2	.	Y	53	ENSP00000365272:C53Y;ENSP00000441994:C53Y	.	C	-	2	0	DLG2	84673940	0.084000	0.21492	0.001000	0.08648	0.033000	0.12548	0.174000	0.16743	0.264000	0.21851	0.655000	0.94253	TGC		0.383	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364		50	111	0	0	0	0	50	111				
TMEM133	83935	broad.mit.edu	37	11	100863058	100863058	+	Missense_Mutation	SNP	G	G	T	rs375608903		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:100863058G>T	ENST00000303130.2	+	1	248	c.19G>T	c.(19-21)Gta>Tta	p.V7L		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	7						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		ACATCACTGCGTAGGACCCGG	0.428																																						uc001pgf.2		NA																	0					0						c.(19-21)GTA>TTA		transmembrane protein 133							67.0	62.0	64.0					11																	100863058		2203	4299	6502	SO:0001583	missense	83935					integral to membrane		g.chr11:100863058G>T	AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.19G>T	11.37:g.100863058G>T	ENSP00000303999:p.Val7Leu						p.V7L	NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0675)	1	248	+		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)	7						Missense_Mutation	SNP	ENST00000303130.2	37	c.19G>T	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	g	3.135	-0.177622	0.06380	.	.	ENSG00000170647	ENST00000303130	.	.	.	2.99	-4.82	0.03171	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	B	0.28291	0.206	B	0.32864	0.154	T	0.35475	-0.9787	8	0.87932	D	0	.	10.486	0.44722	0.681:0.0:0.319:0.0	.	7	Q9H2Q1	TM133_HUMAN	L	7	.	ENSP00000303999:V7L	V	+	1	0	TMEM133	100368268	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.364000	0.07583	-1.340000	0.02227	-2.852000	0.00102	GTA		0.428	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1	NM_032021		24	46	1	0	7.88e-14	9.15e-14	24	46				
MCAM	4162	broad.mit.edu	37	11	119181165	119181165	+	Missense_Mutation	SNP	G	G	A	rs528808258		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:119181165G>A	ENST00000264036.4	-	15	1819	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	602					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTACGAGACGGGGGTAGCGT	0.587																																						uc001pwf.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1804-1806)CCG>CTG		melanoma cell adhesion molecule							103.0	106.0	105.0					11																	119181165		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119181165G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1805C>T	11.37:g.119181165G>A	ENSP00000264036:p.Pro602Leu					MCAM_uc001pwg.1_Intron	p.P602L	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	15	1834	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	602			Cytoplasmic (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1805C>T	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250904	0.39797	.	.	ENSG00000076706	ENST00000264036	T	0.54279	0.58	5.28	4.16	0.48862	.	.	.	.	.	T	0.34774	0.0909	N	0.24115	0.695	0.80722	D	1	B	0.19817	0.039	B	0.08055	0.003	T	0.25572	-1.0128	9	0.49607	T	0.09	-29.061	6.8537	0.24028	0.0992:0.0:0.6777:0.2231	.	602	P43121	MUC18_HUMAN	L	602	ENSP00000264036:P602L	ENSP00000264036:P602L	P	-	2	0	MCAM	118686375	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.883000	0.48554	2.461000	0.83175	0.563000	0.77884	CCG		0.587	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			64	111	0	0	0	0	64	111				
ROBO4	54538	broad.mit.edu	37	11	124756993	124756993	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr11:124756993G>T	ENST00000306534.3	-	15	2800	c.2315C>A	c.(2314-2316)cCa>cAa	p.P772Q	ROBO4_ENST00000533054.1_Missense_Mutation_p.P627Q|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	772	Pro/Ser-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACTGGAAGCTGGGCTGGGGCC	0.652																																						uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(2314-2316)CCA>CAA		roundabout homolog 4, magic roundabout							32.0	35.0	34.0					11																	124756993		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756993G>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2315C>A	11.37:g.124756993G>T	ENSP00000304945:p.Pro772Gln					ROBO4_uc010sas.1_Missense_Mutation_p.P627Q|ROBO4_uc001qbh.2_Missense_Mutation_p.P662Q|ROBO4_uc001qbi.2_Missense_Mutation_p.P330Q	p.P772Q	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	15	2455	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	772			Pro/Ser-rich.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2315C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	g	19.71	3.877464	0.72294	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68025	-0.3;0.09	4.61	3.66	0.41972	.	0.777638	0.10553	N	0.661246	T	0.74465	0.3720	M	0.66939	2.045	0.21675	N	0.999599	P;P;P	0.51791	0.911;0.948;0.914	P;P;P	0.55577	0.7;0.779;0.606	T	0.61103	-0.7130	10	0.56958	D	0.05	.	8.9875	0.36003	0.1111:0.0:0.8889:0.0	.	772;662;772	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	Q	772;662;627	ENSP00000304945:P772Q;ENSP00000437129:P627Q	ENSP00000304945:P772Q	P	-	2	0	ROBO4	124262203	0.903000	0.30736	0.764000	0.31436	0.992000	0.81027	1.143000	0.31553	0.904000	0.36572	0.552000	0.68991	CCA		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		14	37	1	0	1.5e-05	1.62e-05	14	37				
RECQL	5965	broad.mit.edu	37	12	21630754	21630754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21630754G>A	ENST00000444129.2	-	7	1318	c.850C>T	c.(850-852)Cca>Tca	p.P284S	RECQL_ENST00000421138.2_Missense_Mutation_p.P284S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	284					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATAGATTTGGCCTATTAAAA	0.328								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NA																	0				ovary(1)|lung(1)	2						c.(850-852)CCA>TCA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							47.0	47.0	47.0					12																	21630754		2203	4300	6503	SO:0001583	missense	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21630754G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.850C>T	12.37:g.21630754G>A	ENSP00000416739:p.Pro284Ser					RECQL_uc001rey.2_Missense_Mutation_p.P284S	p.P284S	NM_032941	NP_116559	P46063	RECQ1_HUMAN			8	1198	-			284					A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	c.850C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034575	0.35893	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.79033	-1.23;-1.23	4.7	3.82	0.43975	DEAD-like helicase (1);	0.154659	0.64402	N	0.000015	T	0.78336	0.4267	M	0.66297	2.02	0.43734	D	0.996225	D	0.56287	0.975	P	0.46685	0.524	T	0.80341	-0.1423	10	0.51188	T	0.08	-2.0634	13.5427	0.61684	0.0756:0.0:0.9244:0.0	.	284	P46063	RECQ1_HUMAN	S	284	ENSP00000416739:P284S;ENSP00000395449:P284S	ENSP00000395449:P284S	P	-	1	0	RECQL	21522021	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	3.965000	0.56788	1.348000	0.45733	-0.127000	0.14921	CCA		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		18	52	0	0	0	0	18	52				
KCNJ8	3764	broad.mit.edu	37	12	21918866	21918866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:21918866G>A	ENST00000240662.2	-	3	1411	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	356					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCCAGCTCTCGGGCACTGCAC	0.463																																						uc001rff.2		NA																	0					0						c.(1066-1068)CGA>TGA		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						126.0	125.0	126.0					12																	21918866		2203	4300	6503	SO:0001587	stop_gained	3764					voltage-gated potassium channel complex		g.chr12:21918866G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1066C>T	12.37:g.21918866G>A	ENSP00000240662:p.Arg356*						p.R356*	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	1404	-			356			Cytoplasmic (By similarity).		O00657	Nonsense_Mutation	SNP	ENST00000240662.2	37	c.1066C>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081448	0.98051	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	.	.	.	5.55	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.4908	0.38958	0.0768:0.0:0.7024:0.2208	.	.	.	.	X	356	.	ENSP00000240662:R356X	R	-	1	2	KCNJ8	21810133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.614000	0.36911	1.581000	0.49865	0.655000	0.94253	CGA		0.463	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		61	155	0	0	0	0	61	155				
PCED1B	91523	broad.mit.edu	37	12	47629946	47629946	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:47629946T>C	ENST00000546455.1	+	4	1831	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	PCED1B_ENST00000432328.1_Missense_Mutation_p.F367S|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	367	Pro-rich.						hydrolase activity (GO:0016787)										CATGCAGGTTTCTTCGTCGAA	0.522																																						uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(1099-1101)TTC>TCC		hypothetical protein LOC91523							159.0	156.0	157.0					12																	47629946		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629946T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1100T>C	12.37:g.47629946T>C	ENSP00000446688:p.Phe367Ser					FAM113B_uc001rpq.2_Missense_Mutation_p.F367S	p.F367S	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1831	+	Renal(347;0.138)|Lung SC(27;0.192)		367			Pro-rich.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1100T>C	CCDS8752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.449154|2.449154	0.43531|0.43531	.|.	.|.	ENSG00000179715|ENSG00000179715	ENST00000546455;ENST00000432328|ENST00000330951	T;T|.	0.32023|.	1.47;1.47|.	3.93|3.93	2.74|2.74	0.32292|0.32292	.|.	0.976907|.	0.08293|.	N|.	0.968200|.	T|T	0.28699|0.28699	0.0711|0.0711	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	D|.	0.64830|.	0.994|.	P|.	0.59889|.	0.865|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|6	0.22109|0.72032	T|D	0.4|0.01	-4.4189|-4.4189	6.3902|6.3902	0.21583|0.21583	0.2291:0.0:0.0:0.7709|0.2291:0.0:0.0:0.7709	.|.	367|.	Q96HM7|.	F113B_HUMAN|.	S|P	367|211	ENSP00000446688:F367S;ENSP00000396040:F367S|.	ENSP00000396040:F367S|ENSP00000328560:S211P	F|S	+|+	2|1	0|0	FAM113B|FAM113B	45916213|45916213	0.065000|0.065000	0.20965|0.20965	0.006000|0.006000	0.13384|0.13384	0.003000|0.003000	0.03518|0.03518	1.639000|1.639000	0.37176|0.37176	0.822000|0.822000	0.34565|0.34565	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		88	182	0	0	0	0	88	182				
KMT2D	8085	broad.mit.edu	37	12	49420628	49420628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:49420628C>T	ENST00000301067.7	-	48	15120	c.15121G>A	c.(15121-15123)Ggg>Agg	p.G5041R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5041					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCAGTGGCCCCGTCACCCTCC	0.607																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15121-15123)GGG>AGG		myeloid/lymphoid or mixed-lineage leukemia 2							63.0	69.0	67.0					12																	49420628		2143	4228	6371	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420628C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15121G>A	12.37:g.49420628C>T	ENSP00000301067:p.Gly5041Arg	HNSCC(34;0.089)					p.G5041R	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15121	-			5041					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15121G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662709	0.47572	.	.	ENSG00000167548	ENST00000301067	T	0.81163	-1.46	4.86	4.86	0.63082	.	0.000000	0.39210	N	0.001425	D	0.90321	0.6972	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91862	0.5500	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5041	O14686	MLL2_HUMAN	R	5041	ENSP00000301067:G5041R	ENSP00000301067:G5041R	G	-	1	0	MLL2	47706895	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.818000	0.86416	2.425000	0.82216	0.655000	0.94253	GGG		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			24	114	0	0	0	0	24	114				
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:70004207C>T	ENST00000361484.3	-	1	735	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632																																						uc001svc.2		NA																	0					0						c.(412-414)GAT>AAT		leucine rich repeat containing 10							56.0	59.0	58.0					12																	70004207		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004207C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.412G>A	12.37:g.70004207C>T	ENSP00000355166:p.Asp138Asn						p.D138N	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	736	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		138			LRR 4.		Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.412G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	5.694	0.312563	0.10789	.	.	ENSG00000198812	ENST00000361484	T	0.25085	1.82	5.62	2.84	0.33178	.	0.708626	0.15226	N	0.273678	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.17369	T	0.5	.	9.661	0.39954	0.0:0.7171:0.0:0.2829	.	138	Q5BKY1	LRC10_HUMAN	N	138	ENSP00000355166:D138N	ENSP00000355166:D138N	D	-	1	0	LRRC10	68290474	0.043000	0.20138	0.001000	0.08648	0.523000	0.34469	1.211000	0.32382	0.426000	0.26116	0.555000	0.69702	GAT		0.632	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		22	107	0	0	0	0	22	107				
NAV3	89795	broad.mit.edu	37	12	78225481	78225481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:78225481C>A	ENST00000397909.2	+	1	413	c.240C>A	c.(238-240)agC>agA	p.S80R	NAV3_ENST00000536525.2_Missense_Mutation_p.S80R|NAV3_ENST00000266692.7_Missense_Mutation_p.S80R|NAV3_ENST00000228327.6_Missense_Mutation_p.S80R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	80	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S80R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGAAGACAGCAAGGTTAGTT	0.413										HNSCC(70;0.22)																												uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(238-240)AGC>AGA		neuron navigator 3							61.0	57.0	58.0					12																	78225481		1873	4111	5984	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225481C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.240C>A	12.37:g.78225481C>A	ENSP00000381007:p.Ser80Arg	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S80R	p.S80R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			1	413	+			80			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.240C>A		.	.	.	.	.	.	.	.	.	.	C	16.59	3.164390	0.57476	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.25	3.28	0.37604	Calponin homology domain (4);	15.647800	0.02051	U	0.050060	T	0.58793	0.2147	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	T	0.56318	-0.7999	10	0.18276	T	0.48	-1.9813	9.8288	0.40928	0.0:0.8152:0.0:0.1848	.	80;80	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	R	80	ENSP00000446628:S80R;ENSP00000446132:S80R;ENSP00000381007:S80R;ENSP00000228327:S80R;ENSP00000266692:S80R	ENSP00000228327:S80R	S	+	3	2	NAV3	76749612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.034000	0.30204	0.610000	0.30035	0.655000	0.94253	AGC		0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		38	13	1	0	8.16e-20	9.68e-20	38	13				
WSCD2	9671	broad.mit.edu	37	12	108634152	108634152	+	Silent	SNP	C	C	T	rs368092771		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:108634152C>T	ENST00000332082.4	+	9	1994	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	WSCD2_ENST00000261400.3_Silent_p.S392S|WSCD2_ENST00000547525.1_Silent_p.S392S|WSCD2_ENST00000549903.1_Silent_p.S392S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	392						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACTGGCGCAGCGGACGGACCA	0.607																																						uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(1174-1176)AGC>AGT		WSC domain containing 2		C		0,4118		0,0,2059	122.0	130.0	127.0		1176	1.0	1.0	12		127	2,8416		0,2,4207	no	coding-synonymous	WSCD2	NM_014653.2		0,2,6266	TT,TC,CC		0.0238,0.0,0.016		392/566	108634152	2,12534	2059	4209	6268	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108634152C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1176C>T	12.37:g.108634152C>T						WSCD2_uc001tmt.2_Silent_p.S392S|WSCD2_uc001tmu.2_Silent_p.S140S	p.S392S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			8	1920	+			392					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.1176C>T	CCDS41828.1																																																																																				0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		118	58	0	0	0	0	118	58				
SELPLG	6404	broad.mit.edu	37	12	109016914	109016914	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:109016914C>A	ENST00000550948.1	-	2	1394	c.1170G>T	c.(1168-1170)ccG>ccT	p.P390P	SELPLG_ENST00000388962.3_Silent_p.P380P|SELPLG_ENST00000228463.6_Silent_p.P406P			Q14242	SELPL_HUMAN	selectin P ligand	390					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCGTCAGGCCCGGGCTCTTGG	0.642																																						uc001tni.2		NA																	0					0						c.(1168-1170)CCG>CCT		selectin P ligand							33.0	34.0	33.0					12																	109016914		2202	4300	6502	SO:0001819	synonymous_variant	6404				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109016914C>A		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.1170G>T	12.37:g.109016914C>A						SELPLG_uc001tnh.2_Silent_p.P380P|SELPLG_uc010sxe.1_Silent_p.P406P	p.P390P	NM_003006	NP_002997	Q14242	SELPL_HUMAN			2	1330	-			390			Cytoplasmic (Potential).		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	c.1170G>T	CCDS31895.2																																																																																				0.642	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			19	5	1	0	1.16e-05	1.25e-05	19	5				
N4BP2L1	90634	broad.mit.edu	37	13	32972595	32972595	+	IGR	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:32972595A>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Missense_Mutation_p.K3315N|BRCA2_ENST00000380152.3_Missense_Mutation_p.K3315N	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TAAAGAAAAAAGAACTGAATT	0.368																																						uc001uub.1		NA								D|Mis|N|F|S						breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(9943-9945)AAA>AAT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							65.0	68.0	67.0					13																	32972595		2203	4300	6503	SO:0001628	intergenic_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972595A>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972595A>T		TCGA Ovarian(8;0.087)					p.K3315N	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	10172	+		Lung SC(185;0.0262)	3315					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.9945A>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863491	0.32884	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00737	5.76;5.76	5.43	-2.49	0.06403	.	1.256700	0.05113	N	0.489264	T	0.00552	0.0018	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48958	-0.8988	10	0.16896	T	0.51	.	0.1307	0.00073	0.3571:0.1991:0.1998:0.244	.	3315	P51587	BRCA2_HUMAN	N	3315	ENSP00000369497:K3315N;ENSP00000439902:K3315N	ENSP00000369497:K3315N	K	+	3	2	BRCA2	31870595	0.000000	0.05858	0.010000	0.14722	0.624000	0.37722	-0.189000	0.09629	0.123000	0.18342	0.383000	0.25322	AAA		0.368	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		33	54	0	0	0	0	33	54				
SUGT1	10910	broad.mit.edu	37	13	53233376	53233376	+	Missense_Mutation	SNP	A	A	G	rs12875900		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:53233376A>G	ENST00000343788.6	+	5	402	c.320A>G	c.(319-321)aAa>aGa	p.K107R	SUGT1_ENST00000310528.8_Missense_Mutation_p.K107R|SUGT1_ENST00000535397.1_Missense_Mutation_p.K51R|SUGT1_ENST00000483074.1_3'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	107					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GAAGGACAAAAATTAGATAGT	0.249																																						uc001vhc.2		NA																	0					0						c.(319-321)AAA>AGA		suppressor of G2 allele of SKP1 isoform a							15.0	17.0	17.0					13																	53233376		2136	4183	6319	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53233376A>G	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.320A>G	13.37:g.53233376A>G	ENSP00000367208:p.Lys107Arg					SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.K107R|SUGT1_uc010thb.1_Missense_Mutation_p.K51R|SUGT1_uc001vhd.2_5'UTR	p.K107R	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	5	545	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	107			TPR 3.		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.320A>G	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	A	8.658	0.899935	0.17686	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.75260	1.45;-0.92;1.45	3.99	3.99	0.46301	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.221627	0.46758	D	0.000263	T	0.69405	0.3107	M	0.72894	2.215	0.32657	N	0.518629	B;B;B	0.21520	0.016;0.057;0.028	B;B;B	0.22152	0.032;0.038;0.032	T	0.71083	-0.4695	10	0.34782	T	0.22	-4.9213	7.901	0.29734	0.8157:0.0:0.0:0.1843	.	51;107;107	F5H5A9;Q9Y2Z0;Q9Y2Z0-2	.;SUGT1_HUMAN;.	R	107;51;107	ENSP00000367208:K107R;ENSP00000443521:K51R;ENSP00000308067:K107R	ENSP00000308067:K107R	K	+	2	0	SUGT1	52131377	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	1.332000	0.33805	1.580000	0.49851	0.379000	0.24179	AAA		0.249	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			12	12	0	0	0	0	12	12				
RASA3	22821	broad.mit.edu	37	13	114758033	114758033	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr13:114758033C>G	ENST00000334062.7	-	22	2294	c.2173G>C	c.(2173-2175)Gat>Cat	p.D725H	RASA3_ENST00000389544.4_Missense_Mutation_p.D693H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	725					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGTCCCCATCAATGTCCAGC	0.483																																						uc001vui.2		NA																	0				lung(3)|skin(1)	4						c.(2173-2175)GAT>CAT		RAS p21 protein activator 3							103.0	77.0	85.0					13																	114758033		2202	4299	6501	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114758033C>G		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2173G>C	13.37:g.114758033C>G	ENSP00000335029:p.Asp725His					RASA3_uc010tkk.1_Missense_Mutation_p.D693H|RASA3_uc001vuj.2_Missense_Mutation_p.D342H	p.D725H	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		22	2304	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	725					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.2173G>C	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450054	0.63290	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.92048	-2.86;-2.96	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95588	0.8652	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	725	Q14644	RASA3_HUMAN	H	725;693	ENSP00000335029:D725H;ENSP00000374195:D693H	.	D	-	1	0	RASA3	113776135	1.000000	0.71417	0.093000	0.20910	0.377000	0.30045	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	GAT		0.483	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		16	31	0	0	0	0	16	31				
KTN1	3895	broad.mit.edu	37	14	56142559	56142559	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:56142559G>C	ENST00000395314.3	+	41	3846	c.3778G>C	c.(3778-3780)Gca>Cca	p.A1260P	KTN1_ENST00000438792.2_Missense_Mutation_p.A1203P|KTN1_ENST00000416613.1_Missense_Mutation_p.A1260P|KTN1_ENST00000395309.3_Missense_Mutation_p.A1260P|KTN1_ENST00000413890.2_Missense_Mutation_p.A1209P|KTN1_ENST00000395308.1_Missense_Mutation_p.A1209P|KTN1_ENST00000554507.1_Missense_Mutation_p.A498P|KTN1_ENST00000555573.1_Missense_Mutation_p.A237P|KTN1_ENST00000395311.1_Missense_Mutation_p.A1209P	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1260					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTTGAAGGCACAGTTAAA	0.368			T	RET	papillary thryoid																																	uc001xcb.2		NA		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(3778-3780)GCA>CCA		kinectin 1 isoform a							136.0	123.0	128.0					14																	56142559		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56142559G>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3778G>C	14.37:g.56142559G>C	ENSP00000378725:p.Ala1260Pro					KTN1_uc001xce.2_Missense_Mutation_p.A1203P|KTN1_uc001xcc.2_Missense_Mutation_p.A1260P|KTN1_uc001xcd.2_Missense_Mutation_p.A1209P|KTN1_uc010trb.1_Missense_Mutation_p.A1232P|KTN1_uc001xcf.1_Missense_Mutation_p.A1209P|KTN1_uc010aoq.2_Missense_Mutation_p.A498P|KTN1_uc010trc.1_Missense_Mutation_p.A237P|KTN1_uc001xcg.2_Missense_Mutation_p.A193P	p.A1260P	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			42	4080	+			1260			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.3778G>C	CCDS41957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.65|15.65	2.897574|2.897574	0.52121|0.52121	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573|ENST00000554294	T;T;T;T;T;T;T;T;T|.	0.78924|.	1.49;1.49;1.49;1.49;1.49;1.49;1.49;-1.22;-1.22|.	5.53|5.53	3.09|3.09	0.35607|0.35607	.|.	0.627229|.	0.14973|.	N|.	0.287736|.	T|T	0.18341|0.18341	0.0440|0.0440	N|N	0.08118|0.08118	0|0	0.22745|0.22745	N|N	0.998783|0.998783	B;B;B;B;B;B|.	0.28933|.	0.039;0.075;0.228;0.13;0.045;0.075|.	B;B;B;B;B;B|.	0.37015|.	0.124;0.124;0.239;0.176;0.071;0.158|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|5	0.66056|.	D|.	0.02|.	-0.288|-0.288	8.1954|8.1954	0.31394|0.31394	0.8156:0.0:0.1844:0.0|0.8156:0.0:0.1844:0.0	.|.	237;1232;498;1203;1209;1260|.	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2|.	.;.;.;.;.;KTN1_HUMAN|.	P|S	1209;1260;1203;1260;1209;1209;1260;498;237|30	ENSP00000394992:A1209P;ENSP00000378720:A1260P;ENSP00000391964:A1203P;ENSP00000378725:A1260P;ENSP00000378719:A1209P;ENSP00000378722:A1209P;ENSP00000388807:A1260P;ENSP00000452073:A498P;ENSP00000451698:A237P|.	ENSP00000334083:A55P|.	A|R	+|+	1|3	0|2	KTN1|KTN1	55212312|55212312	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	3.729000|3.729000	0.54999|0.54999	0.429000|0.429000	0.26202|0.26202	-0.312000|-0.312000	0.09012|0.09012	GCA|AGG		0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			15	46	0	0	0	0	15	46				
SLC8A3	6547	broad.mit.edu	37	14	70633852	70633852	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:70633852A>T	ENST00000381269.2	-	2	2041	c.1288T>A	c.(1288-1290)Tat>Aat	p.Y430N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y430N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y430N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y430N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y430N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	430	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TAGTCCACATACATGGTCTTT	0.522																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1288-1290)TAT>AAT		solute carrier family 8 (sodium/calcium							135.0	125.0	128.0					14																	70633852		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633852A>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1288T>A	14.37:g.70633852A>T	ENSP00000370669:p.Tyr430Asn					SLC8A3_uc001xlw.2_Missense_Mutation_p.Y430N|SLC8A3_uc001xlx.2_Missense_Mutation_p.Y430N|SLC8A3_uc001xlz.2_Missense_Mutation_p.Y430N|SLC8A3_uc010ara.2_RNA	p.Y430N	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2042	-			430			Calx-beta 1.|Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1288T>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380685	0.42207	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.72	5.72	0.89469	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.49778	1.585	0.58432	D	0.999999	P;P;D;D	0.76494	0.71;0.754;0.999;0.999	B;B;D;D	0.85130	0.273;0.393;0.997;0.979	T	0.46830	-0.9163	10	0.29301	T	0.29	.	16.0105	0.80399	1.0:0.0:0.0:0.0	.	430;430;430;430	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	430	ENSP00000349392:Y430N;ENSP00000370669:Y430N;ENSP00000350560:Y430N;ENSP00000436688:Y430N;ENSP00000433531:Y430N	ENSP00000349392:Y430N	Y	-	1	0	SLC8A3	69703605	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.318000	0.79029	2.170000	0.68504	0.523000	0.50628	TAT		0.522	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			73	112	0	0	0	0	73	112				
NRDE2	55051	broad.mit.edu	37	14	90767686	90767686	+	Missense_Mutation	SNP	C	C	T	rs150270537		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr14:90767686C>T	ENST00000354366.3	-	7	1674	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.R250Q	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	481																	GCCAGCCTGCCGCAGAAAGTG	0.517																																						uc001xyi.1		NA																	0				ovary(2)|lung(1)	3						c.(1441-1443)CGG>CAG		hypothetical protein LOC55051 isoform 1		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	53.0	55.0		1442,749	5.5	1.0	14	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	C14orf102	NM_017970.3,NM_199043.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	481/1165,250/934	90767686	1,13005	2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90767686C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1442G>A	14.37:g.90767686C>T	ENSP00000346335:p.Arg481Gln					C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.R250Q	p.R481Q	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	7	1473	-		all_cancers(154;0.118)	481					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1442G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827540	0.71143	2.27E-4	0.0	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.32515	1.45;1.45	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);Domain of unknown function DUF1740 (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.60188	-0.7312	10	0.48119	T	0.1	-33.725	19.7622	0.96325	0.0:1.0:0.0:0.0	.	481	Q9H7Z3	CN102_HUMAN	Q	481;250;60	ENSP00000346335:R481Q;ENSP00000350579:R250Q	ENSP00000346335:R481Q	R	-	2	0	C14orf102	89837439	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.746000	0.68681	2.732000	0.93576	0.650000	0.86243	CGG		0.517	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		20	32	0	0	0	0	20	32				
MKRN3	7681	broad.mit.edu	37	15	23811475	23811475	+	Silent	SNP	C	C	T	rs200863828		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:23811475C>T	ENST00000314520.3	+	1	1022	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	182					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCTTTGAAGCCGAGAGAGACA	0.617																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(544-546)GCC>GCT		makorin ring finger protein 3							30.0	34.0	33.0					15																	23811475		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811475C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.546C>T	15.37:g.23811475C>T						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A182A	p.A182A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1022	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	182						Silent	SNP	ENST00000314520.3	37	c.546C>T	CCDS10013.1																																																																																				0.617	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		22	32	0	0	0	0	22	32				
CHST14	113189	broad.mit.edu	37	15	40763950	40763950	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:40763950C>A	ENST00000306243.5	+	1	791	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CHST14_ENST00000559991.1_Missense_Mutation_p.L155I	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	180					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGACGTCCGCCTCAAGATGGA	0.602																																						uc001zlw.2		NA																	0					0						c.(538-540)CTC>ATC		dermatan 4 sulfotransferase 1							59.0	50.0	53.0					15																	40763950		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40763950C>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"""Sulfotransferases, membrane-bound"""	24464	protein-coding gene	gene with protein product		608429	"""dermatan 4 sulfotransferase 1"""	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.538C>A	15.37:g.40763950C>A	ENSP00000307297:p.Leu180Ile						p.L180I	NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	738	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	180			Lumenal (Potential).		Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.538C>A	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982277	0.34942	.	.	ENSG00000169105	ENST00000306243	T	0.73897	-0.79	4.98	4.98	0.66077	.	0.079856	0.50627	D	0.000117	T	0.46776	0.1410	N	0.01003	-1.06	0.38550	D	0.949437	B	0.16396	0.017	B	0.11329	0.006	T	0.49890	-0.8891	10	0.24483	T	0.36	-11.7675	15.7994	0.78439	0.0:1.0:0.0:0.0	.	180	Q8NCH0	CHSTE_HUMAN	I	180	ENSP00000307297:L180I	ENSP00000307297:L180I	L	+	1	0	CHST14	38551242	0.145000	0.22656	1.000000	0.80357	0.998000	0.95712	0.944000	0.29043	2.605000	0.88082	0.655000	0.94253	CTC		0.602	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		39	51	1	0	2.36e-20	2.82e-20	39	51				
LIPC	3990	broad.mit.edu	37	15	58834054	58834054	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr15:58834054T>C	ENST00000356113.6	+	5	959	c.344T>C	c.(343-345)gTg>gCg	p.V115A	LIPC_ENST00000433326.2_Intron|LIPC_ENST00000414170.3_Missense_Mutation_p.V115A|LIPC_ENST00000299022.5_Missense_Mutation_p.V115A			P11150	LIPC_HUMAN	lipase, hepatic	115					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCCCAGCCAGTGAACGTGGGG	0.652																																						uc010bga.1		NA																	0				ovary(1)	1						c.(343-345)GTG>GCG		lipase C precursor							37.0	39.0	38.0					15																	58834054		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834054T>C		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.344T>C	15.37:g.58834054T>C	ENSP00000348425:p.Val115Ala					LIPC_uc010bfz.1_Missense_Mutation_p.V115A|LIPC_uc002afa.1_Missense_Mutation_p.V115A|LIPC_uc010bgb.1_Missense_Mutation_p.V13A|LIPC_uc010ugy.1_Intron	p.V115A	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	5	952	+		Colorectal(260;0.215)	115					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.344T>C	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	T	5.495	0.276321	0.10403	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022	D;D;D	0.90844	-2.74;-2.74;-2.74	4.6	4.6	0.57074	Lipase, N-terminal (1);	0.321128	0.30109	N	0.010392	D	0.83418	0.5250	L	0.45051	1.395	0.45056	D	0.998076	B	0.19935	0.04	B	0.22386	0.039	T	0.73726	-0.3892	10	0.02654	T	1	.	9.527	0.39171	0.0:0.0835:0.0:0.9165	.	115	P11150	LIPC_HUMAN	A	115	ENSP00000348425:V115A;ENSP00000395569:V115A;ENSP00000299022:V115A	ENSP00000299022:V115A	V	+	2	0	LIPC	56621346	0.997000	0.39634	0.909000	0.35828	0.876000	0.50452	4.078000	0.57606	1.923000	0.55706	0.379000	0.24179	GTG		0.652	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			15	24	0	0	0	0	15	24				
CLEC16A	23274	broad.mit.edu	37	16	11097000	11097000	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:11097000C>T	ENST00000409790.1	+	11	1371	c.1141C>T	c.(1141-1143)Cac>Tac	p.H381Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.H379Y	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GATGAACAAGCACAAGGGCAA	0.537																																						uc002dao.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1141-1143)CAC>TAC		C-type lectin domain family 16, member A							56.0	57.0	56.0					16																	11097000		1889	4127	6016	SO:0001583	missense	23274							g.chr16:11097000C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1141C>T	16.37:g.11097000C>T	ENSP00000387122:p.His381Tyr					CLEC16A_uc002dan.3_Missense_Mutation_p.H379Y	p.H381Y	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			11	1371	+			381						Missense_Mutation	SNP	ENST00000409790.1	37	c.1141C>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495464	0.44352	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.45668	0.89	5.62	5.62	0.85841	.	0.203156	0.53938	D	0.000052	T	0.29028	0.0721	N	0.08118	0	0.80722	D	1	B;P	0.34757	0.393;0.467	B;B	0.34652	0.133;0.187	T	0.24048	-1.0171	10	0.62326	D	0.03	-24.8933	18.6399	0.91392	0.0:1.0:0.0:0.0	.	381;379	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Y	381;381;379	ENSP00000387122:H381Y	ENSP00000386495:H379Y	H	+	1	0	CLEC16A	11004501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.662000	0.90505	0.655000	0.94253	CAC		0.537	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		13	34	0	0	0	0	13	34				
CDH8	1006	broad.mit.edu	37	16	61859022	61859022	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:61859022A>T	ENST00000577390.1	-	5	1683	c.729T>A	c.(727-729)gtT>gtA	p.V243V	CDH8_ENST00000577730.1_Silent_p.V243V|CDH8_ENST00000584337.1_Silent_p.V243V|CDH8_ENST00000299345.6_Silent_p.V243V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	243	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGCTTGGATAACAACCAGGT	0.458																																						uc002eog.1		NA																	0				ovary(6)|skin(2)|breast(1)	9						c.(727-729)GTT>GTA		cadherin 8, type 2 preproprotein							132.0	116.0	122.0					16																	61859022		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61859022A>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.729T>A	16.37:g.61859022A>T						CDH8_uc002eoh.2_Silent_p.V12V	p.V243V	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	981	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	243			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.729T>A	CCDS10802.1																																																																																				0.458	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		16	72	0	0	0	0	16	72				
CDH3	1001	broad.mit.edu	37	16	68729736	68729736	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:68729736C>T	ENST00000264012.4	+	15	2734	c.2190C>T	c.(2188-2190)ctC>ctT	p.L730L	CDH3_ENST00000581171.1_Silent_p.L675L|CDH3_ENST00000429102.2_Silent_p.L730L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	730					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGGTGGTTCTCCGCAATGACG	0.582																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(2188-2190)CTC>CTT		cadherin 3, type 1 preproprotein							115.0	85.0	95.0					16																	68729736		2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68729736C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2190C>T	16.37:g.68729736C>T						CDH3_uc010vli.1_Silent_p.L675L	p.L730L	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	15	3322	+		Ovarian(137;0.0564)	730			Cytoplasmic (Potential).		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.2190C>T	CCDS10868.1																																																																																				0.582	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		73	62	0	0	0	0	73	62				
SF3B3	23450	broad.mit.edu	37	16	70590203	70590203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:70590203A>T	ENST00000302516.5	+	14	2043	c.1832A>T	c.(1831-1833)gAc>gTc	p.D611V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	611					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGGCTTGTGGACAACACTGTC	0.542																																						uc002ezf.2		NA																	0				ovary(1)	1						c.(1831-1833)GAC>GTC		splicing factor 3b, subunit 3							228.0	185.0	200.0					16																	70590203		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70590203A>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1832A>T	16.37:g.70590203A>T	ENSP00000305790:p.Asp611Val						p.D611V	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			14	2043	+		Ovarian(137;0.0694)	611					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.1832A>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.912918	0.92178	.	.	ENSG00000189091	ENST00000302516	T	0.27890	1.64	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77854	-0.2433	10	0.87932	D	0	.	15.5219	0.75871	1.0:0.0:0.0:0.0	.	611	Q15393	SF3B3_HUMAN	V	611	ENSP00000305790:D611V	ENSP00000305790:D611V	D	+	2	0	SF3B3	69147704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.082000	0.62665	0.533000	0.62120	GAC		0.542	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		84	179	0	0	0	0	84	179				
CNTNAP4	85445	broad.mit.edu	37	16	76555134	76555134	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:76555134T>C	ENST00000476707.1	+	15	2611	c.2472T>C	c.(2470-2472)ttT>ttC	p.F824F	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.F820F|CNTNAP4_ENST00000377504.4_Silent_p.F772F|CNTNAP4_ENST00000478060.1_Silent_p.F748F			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTCTTTTTTAAGACAACAG	0.408																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2461-2463)TTT>TTC		cell recognition protein CASPR4 isoform 1							232.0	220.0	224.0					16																	76555134		1817	4069	5886	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555134T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2472T>C	16.37:g.76555134T>C						CNTNAP4_uc002fev.1_Silent_p.F685F|CNTNAP4_uc010chb.1_Silent_p.F748F|CNTNAP4_uc002fex.1_Silent_p.F824F	p.F821F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			18	2848	+			821			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2463T>C																																																																																					0.408	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		62	202	0	0	0	0	62	202				
FBXO31	79791	broad.mit.edu	37	16	87376494	87376494	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:87376494C>A	ENST00000311635.7	-	5	733	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	241					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCTGCCTCCCGCCGGACATC	0.557																																						uc002fjw.2		NA																	0				lung(1)	1						c.(721-723)GGG>TGG		F-box protein 31							82.0	63.0	70.0					16																	87376494		2198	4299	6497	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87376494C>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.721G>T	16.37:g.87376494C>A	ENSP00000310841:p.Gly241Trp					FBXO31_uc010vot.1_Missense_Mutation_p.G69W|FBXO31_uc002fjv.2_Missense_Mutation_p.G133W	p.G241W	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	5	765	-			241					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.721G>T	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130243	0.77549	.	.	ENSG00000103264	ENST00000311635	T	0.68765	-0.35	5.1	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76828	-0.2815	10	0.87932	D	0	-15.1586	14.861	0.70382	0.1448:0.8552:0.0:0.0	.	241;133	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	W	241	ENSP00000310841:G241W	ENSP00000310841:G241W	G	-	1	0	FBXO31	85933995	1.000000	0.71417	0.790000	0.31976	0.992000	0.81027	7.617000	0.83032	1.120000	0.41904	0.655000	0.94253	GGG		0.557	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		9	8	1	0	0.00621372	0.0065399	9	8				
ZC3H18	124245	broad.mit.edu	37	16	88689626	88689626	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:88689626G>A	ENST00000301011.5	+	10	1867		c.e10-1		ZC3H18_ENST00000452588.2_Splice_Site	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18							nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCCGCCCCAGGTCGTCTTCG	0.657																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.e10-1		zinc finger CCCH-type containing 18							54.0	42.0	46.0					16																	88689626		2198	4299	6497	SO:0001630	splice_region_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88689626G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1668-1G>A	16.37:g.88689626G>A						ZC3H18_uc010voz.1_Splice_Site_p.R580_splice|ZC3H18_uc010chw.2_Splice_Site	p.R556_splice	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	10	1868	+								Q96DG4|Q96MP7	Splice_Site	SNP	ENST00000301011.5	37	c.1668_splice	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279552	0.40294	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZC3H18	87217127	1.000000	0.71417	0.995000	0.50966	0.046000	0.14306	8.910000	0.92685	2.596000	0.87737	0.561000	0.74099	.		0.657	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	Intron	29	25	0	0	0	0	29	25				
TP53	7157	broad.mit.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:7578553T>C	ENST00000269305.4	-	5	566	c.377A>G	c.(376-378)tAc>tGc	p.Y126C	TP53_ENST00000413465.2_Splice_Site_p.Y126C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site_p.Y126C|TP53_ENST00000359597.4_Splice_Site_p.Y126C|TP53_ENST00000445888.2_Splice_Site_p.Y126C|TP53_ENST00000455263.2_Splice_Site_p.Y126C	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(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)	GGCAGGGGAGTACTGTAGGAA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	p.Y126*(9)|p.0?(7)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126D(3)|p.Y126_N131delYSPALN(3)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126Y(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*24(1)|p.Y126fs*18(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|liver(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						c.(376-378)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							43.0	43.0	43.0					17																	7578553		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578553T>C	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.376-1A>G	17.37:g.7578553T>C		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_Missense_Mutation_p.Y126C|TP53_uc002gih.2_Missense_Mutation_p.Y126C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.Y126C|TP53_uc010cni.1_Missense_Mutation_p.Y126C|TP53_uc002gij.2_Missense_Mutation_p.Y126C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y33C|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.Y87C	p.Y126C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	571	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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	Missense_Mutation	SNP	ENST00000269305.4	37	c.377A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.320083	0.81469	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.989;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126C;ENSP00000352610:Y126C;ENSP00000269305:Y126C;ENSP00000398846:Y126C;ENSP00000391127:Y126C;ENSP00000391478:Y126C;ENSP00000423862:Y33C;ENSP00000424104:Y126C;ENSP00000426252:Y126C	ENSP00000269305:Y126C	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	44	10	0	0	0	0	44	10				
MYH4	4622	broad.mit.edu	37	17	10369589	10369589	+	Splice_Site	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:10369589C>A	ENST00000255381.2	-	4	459		c.e4+1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGGTGCTCACGTAGATCATC	0.433																																						uc002gmn.2		NA																	1	Unknown(1)		kidney(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.e4+1		myosin, heavy polypeptide 4, skeletal muscle							246.0	200.0	215.0					17																	10369589		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369589C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.348+1G>T	17.37:g.10369589C>A						uc002gml.1_Intron	p.Y116_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			4	459	-									Splice_Site	SNP	ENST00000255381.2	37	c.348_splice	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552854	0.65425	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4991	0.90875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2;MYH4	10310314	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.547000	0.82146	2.666000	0.90696	0.650000	0.86243	.		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	43	85	1	0	1.57e-16	1.83e-16	43	85				
ITGB3	3690	broad.mit.edu	37	17	45368453	45368453	+	Splice_Site	SNP	C	C	T	rs147758772		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:45368453C>T	ENST00000559488.1	+	9	1275	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	ITGB3_ENST00000571680.1_Missense_Mutation_p.T420M|ITGB3_ENST00000560629.1_Splice_Site_p.H408H|ITGB3_ENST00000435993.2_Splice_Site_p.T373M	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	420					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ATTGGAGACACGGTGAGGTGG	0.542																																						uc002ilj.2		NA																	0				central_nervous_system(5)|large_intestine(1)	6						c.(1258-1260)ACG>ATG		integrin beta chain, beta 3 precursor	Abciximab(DB00054)|Tirofiban(DB00775)	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	98.0	85.0	89.0		1259	5.3	1.0	17	dbSNP_134	89	0,8600		0,0,4300	yes	missense-near-splice	ITGB3	NM_000212.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	420/789	45368453	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45368453C>T		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1260+1C>T	17.37:g.45368453C>T						ITGB3_uc002ili.1_Missense_Mutation_p.T420M|ITGB3_uc010wkr.1_RNA	p.T420M	NM_000212	NP_000203	P05106	ITB3_HUMAN			9	1279	+			420			Extracellular (Potential).		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1259C>T	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001150	0.93227	2.27E-4	0.0	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92965	-3.14	5.33	5.33	0.75918	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	L	0.52573	1.65	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.57324	0.745;0.818	D	0.93711	0.7024	10	0.52906	T	0.07	.	17.7885	0.88546	0.0:1.0:0.0:0.0	.	420;420	P05106;Q2YFE1	ITB3_HUMAN;.	M	420;373	ENSP00000407801:T373M	ENSP00000262017:T420M	T	+	2	0	C17orf57	42723452	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.783000	0.85696	2.494000	0.84150	0.462000	0.41574	ACG		0.542	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	Missense_Mutation	30	84	0	0	0	0	30	84				
KCNJ2	3759	broad.mit.edu	37	17	68171810	68171810	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:68171810G>A	ENST00000243457.3	+	2	1013	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCNJ2_ENST00000535240.1_Silent_p.L210L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	210					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCTGTGTTTGATGTGGCGAG	0.498																																						uc010dfg.2		NA																	0					0						c.(628-630)TTG>TTA		potassium inwardly-rectifying channel J2							118.0	100.0	106.0					17																	68171810		2203	4300	6503	SO:0001819	synonymous_variant	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171810G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.630G>A	17.37:g.68171810G>A						KCNJ2_uc002jir.2_Silent_p.L210L	p.L210L	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	1031	+	Breast(10;1.64e-08)		210			Cytoplasmic (By similarity).		O15110|P48049	Silent	SNP	ENST00000243457.3	37	c.630G>A	CCDS11688.1																																																																																				0.498	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		34	56	0	0	0	0	34	56				
EVPL	2125	broad.mit.edu	37	17	74019475	74019475	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr17:74019475C>T	ENST00000301607.3	-	4	631	c.378G>A	c.(376-378)gtG>gtA	p.V126V	EVPL_ENST00000586740.1_Silent_p.V126V	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	126	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ACTCCTGGGTCACCCGCTCGT	0.672																																						uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(376-378)GTG>GTA		envoplakin							73.0	76.0	75.0					17																	74019475		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019475C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.378G>A	17.37:g.74019475C>T						EVPL_uc010wss.1_Silent_p.V126V|EVPL_uc010wst.1_5'UTR	p.V126V	NM_001988	NP_001979	Q92817	EVPL_HUMAN			4	606	-			126			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.378G>A	CCDS11737.1																																																																																				0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		28	72	0	0	0	0	28	72				
MAST1	22983	broad.mit.edu	37	19	12975624	12975624	+	Splice_Site	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12975624C>T	ENST00000251472.4	+	13	1407	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCCTGCAGGCGGCGACTGTG	0.537																																						uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1366-1368)GGC>GGT		microtubule associated serine/threonine kinase							66.0	66.0	66.0					19																	12975624		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975624C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1367-1C>T	19.37:g.12975624C>T							p.G456G	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			13	1496	+			456			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1368C>T	CCDS32921.1																																																																																				0.537	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Silent	19	36	0	0	0	0	19	36				
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	rs201835225	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													C|||	3	0.000599042	0.0	0.0014	5008	,	,		15988	0.0		0.001	False		,,,				2504	0.001				Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NA																	1	Substitution - Missense(1)		prostate(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1705-1707)CGG>TGG		solute carrier family 5 (sodium iodide		C	TRP/ARG	0,4406		0,0,2203	116.0	112.0	113.0		1705	1.2	0.0	19		113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC5A5	NM_000453.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	569/644	18001748	1,13005	2203	4300	6503	SO:0001583	missense	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18001748C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1705C>T	19.37:g.18001748C>T	ENSP00000222248:p.Arg569Trp						p.R569W	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			14	2052	+			569			Cytoplasmic (Potential).		O43702|Q2M335|Q9NYB6	Missense_Mutation	SNP	ENST00000222248.3	37	c.1705C>T	CCDS12368.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066877	0.36470	0.0	1.16E-4	ENSG00000105641	ENST00000222248	D	0.87029	-2.2	4.71	1.18	0.20946	.	22.923100	0.00166	N	0.000010	D	0.85026	0.5603	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.42653	0.394	T	0.70561	-0.4838	10	0.54805	T	0.06	.	5.1415	0.14961	0.5241:0.3652:0.0:0.1107	.	569	Q92911	SC5A5_HUMAN	W	569	ENSP00000222248:R569W	ENSP00000222248:R569W	R	+	1	2	SLC5A5	17862748	0.002000	0.14202	0.002000	0.10522	0.663000	0.39108	0.255000	0.18333	0.148000	0.19059	0.491000	0.48974	CGG		0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			75	130	0	0	0	0	75	130				
ZNF285	26974	broad.mit.edu	37	19	44890792	44890792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:44890792G>C	ENST00000330997.4	-	4	1679	c.1615C>G	c.(1615-1617)Ccc>Gcc	p.P539A	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P546A|ZNF285_ENST00000544719.2_Missense_Mutation_p.P539A	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTTATAGGGCCTCTCTCTT	0.438																																						uc002ozd.3		NA																	0				ovary(2)|skin(2)	4						c.(1615-1617)CCC>GCC		zinc finger protein 285							102.0	97.0	99.0					19																	44890792		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44890792G>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1615C>G	19.37:g.44890792G>C	ENSP00000333595:p.Pro539Ala					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.P546A	p.P539A	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			4	1702	-			539					Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1615C>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587557	0.66105	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.16457	2.34	3.62	3.62	0.41486	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47619	0.1455	M	0.88310	2.945	0.28629	N	0.90774	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	T	0.49597	-0.8923	9	0.87932	D	0	.	14.4934	0.67667	0.0:0.0:1.0:0.0	.	563;539	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	A	562;539	ENSP00000333595:P539A	ENSP00000333595:P539A	P	-	1	0	ZNF285	49582632	0.998000	0.40836	0.997000	0.53966	0.978000	0.69477	2.629000	0.46485	1.759000	0.51996	0.454000	0.30748	CCC		0.438	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		39	19	0	0	0	0	39	19				
ZNF83	55769	broad.mit.edu	37	19	53117347	53117347	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:53117347G>A	ENST00000597597.1	-	2	2724	c.471C>T	c.(469-471)gtC>gtT	p.V157V	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.V157V|ZNF83_ENST00000391789.4_Silent_p.V157V|ZNF83_ENST00000544146.1_Silent_p.V157V|ZNF83_ENST00000545872.1_Silent_p.V157V|ZNF83_ENST00000536937.1_Silent_p.V157V|ZNF83_ENST00000541777.2_Silent_p.V157V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATTATGGAAGACCTTGCCAC	0.353																																						uc002pzu.3		NA																	0				ovary(1)	1						c.(469-471)GTC>GTT		zinc finger protein 83 isoform a							65.0	64.0	65.0					19																	53117347		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117347G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.471C>T	19.37:g.53117347G>A						ZNF83_uc002pzv.3_Silent_p.V157V|ZNF83_uc010eps.2_Silent_p.V157V|ZNF83_uc010ept.2_Silent_p.V157V|ZNF83_uc010epu.2_Silent_p.V157V|ZNF83_uc010epv.2_Silent_p.V157V|ZNF83_uc010epw.2_Silent_p.V157V|ZNF83_uc010epx.2_Silent_p.V157V|ZNF83_uc010epy.2_Silent_p.V157V|ZNF83_uc010epz.2_Silent_p.V157V|ZNF83_uc010eqb.1_Silent_p.V157V	p.V157V	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	1715	-			157			C2H2-type 3.		A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.471C>T	CCDS12854.1																																																																																				0.353	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		16	25	0	0	0	0	16	25				
LILRA4	23547	broad.mit.edu	37	19	54850163	54850163	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:54850163A>G	ENST00000291759.4	-	2	100	c.44T>C	c.(43-45)cTg>cCg	p.L15P	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	15					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCTGGGGCCCAGGCTCAGCCC	0.622											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(43-45)CTG>CCG		leukocyte immunoglobulin-like receptor subfamily							65.0	70.0	69.0					19																	54850163		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54850163A>G	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.44T>C	19.37:g.54850163A>G	ENSP00000291759:p.Leu15Pro		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003	LILRA4_uc002qfi.2_5'UTR	p.L15P	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	2	101	-	Ovarian(34;0.19)		15					Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.44T>C	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	7.263	0.605556	0.14002	.	.	ENSG00000239961	ENST00000291759	T	0.00561	6.59	2.5	1.43	0.22495	.	0.780131	0.10868	N	0.625306	T	0.01029	0.0034	M	0.91090	3.175	0.09310	N	0.999999	B	0.14438	0.01	B	0.04013	0.001	T	0.37174	-0.9717	10	0.72032	D	0.01	.	5.485	0.16745	0.709:0.291:0.0:0.0	.	15	P59901	LIRA4_HUMAN	P	15	ENSP00000291759:L15P	ENSP00000291759:L15P	L	-	2	0	LILRA4	59541975	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-0.015000	0.12634	0.351000	0.24027	0.455000	0.32223	CTG		0.622	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		25	22	0	0	0	0	25	22				
MYT1L	23040	broad.mit.edu	37	2	1843127	1843127	+	Silent	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617																																						uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2872-2874)GGG>GGT		myelin transcription factor 1-like							38.0	45.0	43.0					2																	1843127		2020	4146	6166	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1843127C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2874G>T	2.37:g.1843127C>A						MYT1L_uc002qxd.2_Silent_p.G956G|MYT1L_uc010ewk.2_5'UTR	p.G958G	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3701	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	958			C2HC-type 5.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2874G>T																																																																																					0.617	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		33	59	1	0	2.76e-19	3.25e-19	33	59				
AGBL5	60509	broad.mit.edu	37	2	27276859	27276859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:27276859C>A	ENST00000360131.4	+	4	642	c.483C>A	c.(481-483)taC>taA	p.Y161*	AGBL5_ENST00000323064.8_Nonsense_Mutation_p.Y161*|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	161					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCTCCTACAGTGACTGCC	0.552																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(481-483)TAC>TAA		ATP/GTP binding protein-like 5 isoform 1							185.0	178.0	180.0					2																	27276859		2203	4300	6503	SO:0001587	stop_gained	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276859C>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.483C>A	2.37:g.27276859C>A	ENSP00000353249:p.Tyr161*					AGBL5_uc002ric.2_Nonsense_Mutation_p.Y161*|AGBL5_uc002rid.2_Nonsense_Mutation_p.Y161*|AGBL5_uc002rif.2_RNA	p.Y161*	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			4	700	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Nonsense_Mutation	SNP	ENST00000360131.4	37	c.483C>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	30	5.050303	0.93740	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	.	.	.	5.78	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9875	13.9114	0.63869	0.0:0.9256:0.0:0.0744	.	.	.	.	X	161	.	.	Y	+	3	2	AGBL5	27130363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.639000	0.54339	1.454000	0.47793	0.561000	0.74099	TAC		0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		75	129	1	0	4.27e-19	5.02e-19	75	129				
APLF	200558	broad.mit.edu	37	2	68772422	68772422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:68772422C>G	ENST00000303795.4	+	8	1435	c.1264C>G	c.(1264-1266)Ccc>Gcc	p.P422A	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCCTGAATGTCCCTATGGACC	0.423																																						uc002sep.2		NA																	0				ovary(2)	2						c.(1264-1266)CCC>GCC		aprataxin and PNKP like factor							159.0	150.0	153.0					2																	68772422		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68772422C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1264C>G	2.37:g.68772422C>G	ENSP00000307004:p.Pro422Ala					APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.P398A|APLF_uc002ser.1_Missense_Mutation_p.P153A	p.P422A	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			8	1437	+			422			PBZ-type 2.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.1264C>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.356044	0.82243	.	.	ENSG00000169621	ENST00000303795	T	0.30714	1.52	5.41	5.41	0.78517	Zinc finger, C2H2, APLF-like (1);	0.000000	0.85682	D	0.000000	T	0.59059	0.2166	M	0.79011	2.435	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.62964	-0.6742	10	0.72032	D	0.01	.	17.9645	0.89096	0.0:1.0:0.0:0.0	.	422	Q8IW19	APLF_HUMAN	A	422	ENSP00000307004:P422A	ENSP00000307004:P422A	P	+	1	0	APLF	68625926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.334000	0.65923	2.533000	0.85409	0.555000	0.69702	CCC		0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		29	67	0	0	0	0	29	67				
FER1L5	90342	broad.mit.edu	37	2	97361486	97361486	+	RNA	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:97361486C>T	ENST00000457909.1	+	0	3405							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAGCTCATGCCGACGGAGGAG	0.642																																						uc010fia.2		NA																	0				ovary(1)	1						c.(3982-3984)CCG>CTG		fer-1-like 5 isoform 2							32.0	37.0	35.0					2																	97361486		2040	4175	6215			90342					integral to membrane		g.chr2:97361486C>T	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361486C>T						FER1L5_uc002sws.3_Missense_Mutation_p.P46L|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.P46L|FER1L5_uc010yus.1_Missense_Mutation_p.P45L	p.P1328L	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			35	3983	+			1328					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.3983C>T		.	.	.	.	.	.	.	.	.	.	C	2.550	-0.304326	0.05495	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.67	3.78	0.43462	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.38436	U	0.001698	T	0.79816	0.4511	M	0.89414	3.03	.	.	.	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.69307	0.963;0.868;0.938	D	0.86279	0.1666	8	0.87932	D	0	-9.8863	11.3079	0.49347	0.183:0.817:0.0:0.0	.	45;1328;46	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	L	1328;1342;46	.	ENSP00000442027:P46L	P	+	2	0	FER1L5	96725213	1.000000	0.71417	0.752000	0.31206	0.008000	0.06430	6.646000	0.74348	0.926000	0.37118	-0.518000	0.04402	CCG		0.642	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		10	18	0	0	0	0	10	18				
SAP130	79595	broad.mit.edu	37	2	128775458	128775458	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:128775458G>A	ENST00000259235.3	-	3	351	c.222C>T	c.(220-222)gtC>gtT	p.V74V	SAP130_ENST00000259234.6_Silent_p.V48V|SAP130_ENST00000357702.5_Silent_p.V74V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	74					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCCTGGCACTGACTTCAGAAT	0.498																																						uc002tpp.2		NA																	0				ovary(2)|skin(2)	4						c.(220-222)GTC>GTT		Sin3A-associated protein, 130kDa isoform b							85.0	74.0	78.0					2																	128775458		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775458G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.222C>T	2.37:g.128775458G>A						SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Silent_p.V74V|SAP130_uc002tpq.1_Silent_p.V48V	p.V74V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	354	-	Colorectal(110;0.1)		74					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.222C>T	CCDS2153.1																																																																																				0.498	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		29	62	0	0	0	0	29	62				
KCNJ3	3760	broad.mit.edu	37	2	155555887	155555887	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:155555887G>T	ENST00000295101.2	+	1	1077	c.600G>T	c.(598-600)gcG>gcT	p.A200A	KCNJ3_ENST00000544049.1_Silent_p.A200A|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	200					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCGAGCACGCGGTGATCTCCA	0.597																																						uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(598-600)GCG>GCT		potassium inwardly-rectifying channel J3	Halothane(DB01159)						60.0	53.0	56.0					2																	155555887		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555887G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.600G>T	2.37:g.155555887G>T						KCNJ3_uc010zce.1_Silent_p.A200A	p.A200A	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	795	+			200			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.600G>T	CCDS2200.1																																																																																				0.597	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		4	33	1	0	0.00909568	0.00949835	4	33				
TTN	7273	broad.mit.edu	37	2	179484368	179484368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:179484368C>G	ENST00000591111.1	-	200	41977	c.41753G>C	c.(41752-41754)aGa>aCa	p.R13918T	TTN_ENST00000589042.1_Missense_Mutation_p.R15559T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6686T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6619T|TTN_ENST00000460472.2_Missense_Mutation_p.R6494T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12991T|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13918					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCTTAGCTCTGGCTTCTTT	0.373																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(38971-38973)AGA>ACA		titin isoform N2-A							153.0	152.0	152.0					2																	179484368		1852	4091	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179484368C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41753G>C	2.37:g.179484368C>G	ENSP00000465570:p.Arg13918Thr					TTN_uc010zfh.1_Missense_Mutation_p.R6686T|TTN_uc010zfi.1_Missense_Mutation_p.R6619T|TTN_uc010zfj.1_Missense_Mutation_p.R6494T	p.R12991T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		199	39196	-			13918					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.38972G>C		.	.	.	.	.	.	.	.	.	.	c	7.760	0.705096	0.15172	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62364	0.03;0.12;0.11;0.09	5.79	2.1	0.27182	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45657	0.1353	N	0.10733	0.035	0.30124	N	0.805415	B;P;P;P	0.35493	0.324;0.505;0.505;0.505	B;B;B;B	0.42319	0.174;0.383;0.383;0.383	T	0.49428	-0.8941	9	0.87932	D	0	.	8.2549	0.31748	0.0:0.7002:0.1131:0.1867	.	6494;6619;6686;13918	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	12991;6494;6686;6619;6494	ENSP00000343764:R12991T;ENSP00000434586:R6494T;ENSP00000340554:R6686T;ENSP00000352154:R6619T	ENSP00000340554:R6686T	R	-	2	0	TTN	179192613	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	1.092000	0.30927	0.118000	0.18165	-1.640000	0.00773	AGA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	57	0	0	0	0	35	57				
SLC39A10	57181	broad.mit.edu	37	2	196592977	196592977	+	Silent	SNP	C	C	T	rs548942366		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:196592977C>T	ENST00000409086.3	+	9	2516	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	SLC39A10_ENST00000359634.5_Silent_p.L747L|SLC39A10_ENST00000541054.1_Silent_p.L297L	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	747					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TAGGCATGCTCATAGGCACAG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		17114	0.001		0.0	False		,,,				2504	0.0					uc002utg.3		NA																	0				pancreas(1)|skin(1)	2						c.(2239-2241)CTC>CTT		solute carrier family 39 (zinc transporter),							233.0	199.0	211.0					2																	196592977		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196592977C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2241C>T	2.37:g.196592977C>T						SLC39A10_uc002uth.3_Silent_p.L747L|SLC39A10_uc010zgp.1_Silent_p.L297L	p.L747L	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		9	2455	+			747			Helical; (Potential).		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.2241C>T	CCDS33353.1																																																																																				0.443	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		8	192	0	0	0	0	8	192				
ARPC2	10109	broad.mit.edu	37	2	219110167	219110167	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:219110167A>T	ENST00000295685.10	+	7	835	c.574A>T	c.(574-576)Agc>Tgc	p.S192C	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Missense_Mutation_p.S192C	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	192					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		ACGCAGAGCCAGCCACACAGC	0.512																																						uc002vhd.2		NA																	0				ovary(1)	1						c.(574-576)AGC>TGC		actin related protein 2/3 complex subunit 2							94.0	99.0	97.0					2																	219110167		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219110167A>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.574A>T	2.37:g.219110167A>T	ENSP00000295685:p.Ser192Cys					ARPC2_uc002vhe.2_Missense_Mutation_p.S192C|ARPC2_uc002vhf.2_Missense_Mutation_p.S78C	p.S192C	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	8	686	+		Renal(207;0.0474)	192					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.574A>T	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.844711	0.91197	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	5.65	5.65	0.86999	.	0.035062	0.85682	D	0.000000	T	0.69788	0.3150	M	0.79805	2.47	0.80722	D	1	B	0.27166	0.17	B	0.25140	0.058	T	0.70219	-0.4932	9	0.54805	T	0.06	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	192	O15144	ARPC2_HUMAN	C	192;192;7	.	ENSP00000295685:S192C	S	+	1	0	ARPC2	218818412	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	AGC		0.512	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		6	152	0	0	0	0	6	152				
RNF24	11237	broad.mit.edu	37	20	3914726	3914726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:3914726G>A	ENST00000336095.6	-	6	682	c.431C>T	c.(430-432)gCa>gTa	p.A144V	RNF24_ENST00000432261.2_Missense_Mutation_p.A165V|RNF24_ENST00000358395.6_Missense_Mutation_p.A144V|RNF24_ENST00000545616.2_Missense_Mutation_p.A165V	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	144						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						AATGTTCTCTGCCCCAGGAAG	0.562																																						uc002wkh.2		NA																	0					0						c.(430-432)GCA>GTA		ring finger protein 24 isoform 1							83.0	81.0	82.0					20																	3914726		2203	4300	6503	SO:0001583	missense	11237					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3914726G>A	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.431C>T	20.37:g.3914726G>A	ENSP00000336753:p.Ala144Val					RNF24_uc002wki.2_Missense_Mutation_p.A165V|RNF24_uc002wkj.2_Missense_Mutation_p.A144V	p.A144V	NM_007219	NP_009150	Q9Y225	RNF24_HUMAN			6	701	-			144					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.431C>T	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789592	0.31685	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.24723	1.87;1.87;1.84;1.84	5.57	5.57	0.84162	.	0.306242	0.34828	N	0.003644	T	0.20373	0.0490	N	0.24115	0.695	0.41888	D	0.990354	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.02705	-1.1121	10	0.37606	T	0.19	-8.9734	17.019	0.86428	0.0:0.0:1.0:0.0	.	165;144	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	V	144;144;165;165	ENSP00000336753:A144V;ENSP00000351166:A144V;ENSP00000444711:A165V;ENSP00000388550:A165V	ENSP00000336753:A144V	A	-	2	0	RNF24	3862726	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.460000	0.66691	2.605000	0.88082	0.591000	0.81541	GCA		0.562	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			67	102	0	0	0	0	67	102				
PHACTR3	116154	broad.mit.edu	37	20	58349395	58349395	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:58349395G>C	ENST00000371015.1	+	7	1491	c.1024G>C	c.(1024-1026)Gct>Cct	p.A342P	PHACTR3_ENST00000395639.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A339P|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A231P|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A301P|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A301P|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A301P	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	342						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAGGGAGGAGGCTTGGAGCTT	0.512																																						uc002yau.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1024-1026)GCT>CCT		phosphatase and actin regulator 3 isoform 1							112.0	109.0	110.0					20																	58349395		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349395G>C	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1024G>C	20.37:g.58349395G>C	ENSP00000360054:p.Ala342Pro					PHACTR3_uc002yat.2_Missense_Mutation_p.A339P|PHACTR3_uc010zzw.1_Missense_Mutation_p.A301P|PHACTR3_uc002yav.2_Missense_Mutation_p.A301P|PHACTR3_uc002yaw.2_Missense_Mutation_p.A301P|PHACTR3_uc002yax.2_Missense_Mutation_p.A231P	p.A342P	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1491	+	all_lung(29;0.00344)		342					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.1024G>C	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412138	0.25465	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33216	1.84;1.85;1.42;1.85;1.85;1.85;1.42	5.06	4.04	0.47022	.	0.633975	0.17272	N	0.180350	T	0.23451	0.0567	L	0.36672	1.1	0.27162	N	0.961131	P;B;B	0.47604	0.898;0.008;0.015	P;B;B	0.45071	0.468;0.004;0.011	T	0.05582	-1.0876	10	0.21540	T	0.41	-14.0234	5.8878	0.18892	0.094:0.0:0.6195:0.2865	.	231;342;339	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	P	339;342;231;301;301;301;231	ENSP00000353002:A339P;ENSP00000360054:A342P;ENSP00000379001:A231P;ENSP00000442483:A301P;ENSP00000347866:A301P;ENSP00000378998:A301P;ENSP00000354555:A231P	ENSP00000347866:A301P	A	+	1	0	PHACTR3	57782790	0.806000	0.28996	0.999000	0.59377	0.289000	0.27227	1.473000	0.35387	2.335000	0.79485	0.655000	0.94253	GCT		0.512	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		35	48	0	0	0	0	35	48				
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr20:61488812C>T	ENST00000335351.3	-	4	1265	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	TCFL5_ENST00000217162.5_Silent_p.Q343Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572																																						uc002ydp.2		NA																	0				large_intestine(1)	1						c.(1171-1173)CAG>CAA		transcription factor-like 5 protein							151.0	139.0	143.0					20																	61488812		2203	4300	6503	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488812C>T	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1173G>A	20.37:g.61488812C>T						TCFL5_uc002ydo.2_Silent_p.Q164Q|TCFL5_uc002ydq.2_Silent_p.Q390Q	p.Q391Q	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN			4	1266	-	Breast(26;5.68e-08)		391					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.1173G>A	CCDS13506.1																																																																																				0.572	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		166	49	0	0	0	0	166	49				
DSCAM	1826	broad.mit.edu	37	21	41684252	41684252	+	Silent	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr21:41684252T>C	ENST00000400454.1	-	9	2295	c.1818A>G	c.(1816-1818)agA>agG	p.R606R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	606	Ig-like C2-type 7.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAATGGAGAATCTTGGAAACT	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1816-1818)AGA>AGG		Down syndrome cell adhesion molecule isoform							40.0	37.0	38.0					21																	41684252		1872	4115	5987	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41684252T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1818A>G	21.37:g.41684252T>C						DSCAM_uc002yyr.1_RNA	p.R606R	NM_001389	NP_001380	O60469	DSCAM_HUMAN			9	2270	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	606			Extracellular (Potential).|Ig-like C2-type 7.		O60468	Silent	SNP	ENST00000400454.1	37	c.1818A>G	CCDS42929.1																																																																																				0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	29	0	0	0	0	16	29				
MYO18B	84700	broad.mit.edu	37	22	26242142	26242142	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:26242142C>G	ENST00000407587.2	+	19	3616	c.3447C>G	c.(3445-3447)ggC>ggG	p.G1149G	MYO18B_ENST00000335473.7_Silent_p.G1148G|MYO18B_ENST00000536101.1_Silent_p.G1148G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1148	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTGGAGGGCACCTCCCAGC	0.667																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(3442-3444)GGC>GGG		myosin XVIIIB							28.0	34.0	32.0					22																	26242142		2023	4182	6205	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26242142C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3447C>G	22.37:g.26242142C>G						MYO18B_uc003aca.1_Silent_p.G1029G|MYO18B_uc010guy.1_Silent_p.G1030G|MYO18B_uc010guz.1_Silent_p.G1029G|MYO18B_uc011aka.1_Silent_p.G302G|MYO18B_uc011akb.1_Silent_p.G661G	p.G1148G	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			19	3694	+			1148			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.3444C>G																																																																																					0.667	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	23	0	0	0	0	10	23				
ADM2	79924	broad.mit.edu	37	22	50921172	50921172	+	Missense_Mutation	SNP	C	C	T	rs549309630		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr22:50921172C>T	ENST00000395738.2	+	2	579	c.287C>T	c.(286-288)tCg>tTg	p.S96L	ADM2_ENST00000362068.2_Missense_Mutation_p.R13W|ADM2_ENST00000395737.1_Missense_Mutation_p.S96L	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	96					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGACACTCGGGCCCCCGC	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		14200	0.0		0.0	False		,,,				2504	0.001					uc003blj.2		NA																	0					0						c.(286-288)TCG>TTG		adrenomedullin 2 precursor							8.0	10.0	10.0					22																	50921172		2004	4015	6019	SO:0001583	missense	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921172C>T	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.287C>T	22.37:g.50921172C>T	ENSP00000379087:p.Ser96Leu					ADM2_uc011ary.1_Missense_Mutation_p.S96L	p.S96L	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	552	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	96					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.287C>T	CCDS33682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.828|4.828	0.153972|0.153972	0.09185|0.09185	.|.	.|.	ENSG00000128165|ENSG00000128165	ENST00000362068|ENST00000395738;ENST00000395737	.|.	.|.	.|.	4.21|4.21	-8.42|-8.42	0.00957|0.00957	.|.	.|.	.|.	.|.	.|.	T|T	0.13329|0.13329	0.0323|0.0323	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.25641|0.25641	-1.0126|-1.0126	6|8	0.51188|0.12430	T|T	0.08|0.62	.|.	8.3063|8.3063	0.32045|0.32045	0.0:0.1744:0.2823:0.5433|0.0:0.1744:0.2823:0.5433	.|.	.|96	.|Q7Z4H4	.|ADM2_HUMAN	W|L	13|96	.|.	ENSP00000354955:R13W|ENSP00000379086:S96L	R|S	+|+	1|2	2|0	ADM2|ADM2	49268038|49268038	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.345000|0.345000	0.29048|0.29048	-0.504000|-0.504000	0.06375|0.06375	-2.917000|-2.917000	0.00306|0.00306	-0.480000|-0.480000	0.04831|0.04831	CGG|TCG		0.697	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		18	11	0	0	0	0	18	11				
CLDND1	56650	broad.mit.edu	37	3	98240121	98240121	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:98240121T>A	ENST00000503004.1	-	2	1027	c.148A>T	c.(148-150)Atc>Ttc	p.I50F	CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.I50F|CLDND1_ENST00000513287.1_Missense_Mutation_p.I50F|CLDND1_ENST00000394181.2_Missense_Mutation_p.I50F|CLDND1_ENST00000394185.2_Missense_Mutation_p.I50F|CLDND1_ENST00000437922.1_Missense_Mutation_p.I73F|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000510545.1_Missense_Mutation_p.I50F|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.I50F|CLDND1_ENST00000507874.1_Missense_Mutation_p.I50F|CLDND1_ENST00000511081.1_Intron			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	50						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATCCCAGATGCTTTTATTC	0.413																																						uc003dsp.2		NA																	0				ovary(1)	1						c.(148-150)ATC>TTC		claudin domain containing 1 protein isoform a							104.0	98.0	100.0					3																	98240121		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98240121T>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.148A>T	3.37:g.98240121T>A	ENSP00000421226:p.Ile50Phe					CLDND1_uc003dso.2_Missense_Mutation_p.I50F|CLDND1_uc003dsq.2_Missense_Mutation_p.I50F|CLDND1_uc003dss.2_Missense_Mutation_p.I50F|CLDND1_uc003dsr.2_Intron|CLDND1_uc003dst.2_Missense_Mutation_p.I73F|CLDND1_uc003dsu.2_Missense_Mutation_p.I50F|CLDND1_uc003dsv.2_Missense_Mutation_p.I50F	p.I50F	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN			2	1028	-			50					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.148A>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.700138	0.30142	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.92;1.91;1.92;1.92;1.92;1.92;1.92;1.92;1.49;1.92;1.92;1.92;1.5	5.09	-6.51	0.01878	.	0.655336	0.15900	N	0.239113	T	0.14960	0.0361	N	0.22421	0.69	0.28967	N	0.889475	B;B;B	0.14805	0.011;0.007;0.0	B;B;B	0.24394	0.053;0.024;0.001	T	0.27054	-1.0085	10	0.19590	T	0.45	-0.0158	9.3571	0.38173	0.0:0.149:0.5806:0.2703	.	50;50;50	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	F	50;50;73;50;3;50;50;50;50;50;28;50;50;50;50;50;50;50;28;50;50;50	ENSP00000340247:I50F;ENSP00000388457:I73F;ENSP00000377734:I50F;ENSP00000421226:I50F;ENSP00000377739:I50F;ENSP00000377735:I50F;ENSP00000423590:I50F;ENSP00000426869:I50F;ENSP00000423732:I28F;ENSP00000425539:I50F;ENSP00000420913:I50F;ENSP00000421413:I50F;ENSP00000423151:I50F	ENSP00000340247:I50F	I	-	1	0	CLDND1	99722811	0.000000	0.05858	0.560000	0.28344	0.822000	0.46500	-0.874000	0.04210	-1.074000	0.03132	-0.316000	0.08728	ATC		0.413	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		39	67	0	0	0	0	39	67				
MORC1	27136	broad.mit.edu	37	3	108773582	108773582	+	Silent	SNP	G	G	T	rs369150269		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:108773582G>T	ENST00000483760.1	-	14	1366	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	MORC1_ENST00000232603.5_Silent_p.T441T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTGATGCCGGTGTCCTTAC	0.373																																						uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1321-1323)ACC>ACA		MORC family CW-type zinc finger 1							169.0	162.0	165.0					3																	108773582		2203	4300	6503	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108773582G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1323C>A	3.37:g.108773582G>T						MORC1_uc011bhn.1_Silent_p.T441T	p.T441T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			14	1410	-			441						Silent	SNP	ENST00000483760.1	37	c.1323C>A																																																																																					0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			62	99	1	0	2.04e-46	2.45e-46	62	99				
ALDH1L1	10840	broad.mit.edu	37	3	125856801	125856801	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:125856801A>T	ENST00000393434.2	-	10	1428	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L370Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.L360Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L259Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	360	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCTCCACCAGCCTGGAGGA	0.567																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1078-1080)CTG>CAG		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						77.0	70.0	72.0					3																	125856801		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125856801A>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1079T>A	3.37:g.125856801A>T	ENSP00000377083:p.Leu360Gln					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.L259Q|ALDH1L1_uc003eio.2_Missense_Mutation_p.L62Q|ALDH1L1_uc010hsf.1_Missense_Mutation_p.L386Q	p.L360Q	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	10	1269	-			360			Acyl carrier.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1079T>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907387	0.72868	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.4	4.4	0.53042	Acyl carrier protein-like (3);Phosphopantetheine-binding (1);	0.083564	0.49305	D	0.000155	T	0.77363	0.4119	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	T	0.81514	-0.0898	10	0.87932	D	0	.	11.9047	0.52703	1.0:0.0:0.0:0.0	.	259;412;360	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	Q	370;360;259;360;360	ENSP00000273450:L370Q;ENSP00000420293:L360Q;ENSP00000395881:L259Q;ENSP00000377083:L360Q;ENSP00000377081:L360Q	ENSP00000273450:L370Q	L	-	2	0	ALDH1L1	127339491	1.000000	0.71417	0.995000	0.50966	0.809000	0.45718	8.228000	0.89789	1.970000	0.57323	0.528000	0.53228	CTG		0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		45	42	0	0	0	0	45	42				
SI	6476	broad.mit.edu	37	3	164739124	164739124	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:164739124G>T	ENST00000264382.3	-	27	3209	c.3147C>A	c.(3145-3147)aaC>aaA	p.N1049K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1049	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGTTGGAATGTTTAACGGTA	0.368										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3145-3147)AAC>AAA		sucrase-isomaltase	Acarbose(DB00284)						232.0	231.0	231.0					3																	164739124		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739124G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3147C>A	3.37:g.164739124G>T	ENSP00000264382:p.Asn1049Lys	HNSCC(35;0.089)					p.N1049K	NM_001041	NP_001032	P14410	SUIS_HUMAN			27	3209	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1049			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3147C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336832	0.24253	.	.	ENSG00000090402	ENST00000264382	T	0.12465	2.68	4.58	2.71	0.32032	Glycoside hydrolase-type carbohydrate-binding (1);	0.403342	0.27677	N	0.018315	T	0.18635	0.0447	M	0.72353	2.195	0.38188	D	0.939816	D	0.53462	0.96	P	0.48654	0.585	T	0.04796	-1.0926	10	0.42905	T	0.14	.	5.5467	0.17067	0.1712:0.0:0.6725:0.1562	.	1049	P14410	SUIS_HUMAN	K	1049	ENSP00000264382:N1049K	ENSP00000264382:N1049K	N	-	3	2	SI	166221818	0.318000	0.24598	1.000000	0.80357	0.280000	0.26924	0.020000	0.13466	1.122000	0.41944	0.585000	0.79938	AAC		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		360	225	1	0	1.92e-182	2.32e-182	360	225				
SERPINI1	5274	broad.mit.edu	37	3	167525052	167525052	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:167525052T>A	ENST00000295777.5	+	6	1333	c.902T>A	c.(901-903)aTt>aAt	p.I301N	SERPINI1_ENST00000446050.2_Missense_Mutation_p.I301N|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	301					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GAACAGGAAATTGATTTAAAA	0.338																																						uc003ffa.3		NA																	0				skin(1)	1						c.(901-903)ATT>AAT		neuroserpin precursor							64.0	70.0	68.0					3																	167525052		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525052T>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.902T>A	3.37:g.167525052T>A	ENSP00000295777:p.Ile301Asn					SERPINI1_uc003ffb.3_Missense_Mutation_p.I301N	p.I301N	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			6	1100	+			301					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.902T>A	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.71|16.71	3.199587|3.199587	0.58126|0.58126	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	D;D|.	0.85556|.	-2.0;-2.0|.	5.36|5.36	4.2|4.2	0.49525|0.49525	Serpin domain (3);|.	0.199564|.	0.53938|.	D|.	0.000059|.	T|T	0.74512|0.74512	0.3726|0.3726	M|M	0.84683|0.84683	2.71|2.71	0.42680|0.42680	D|D	0.993543|0.993543	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.87932|.	D|.	0|.	.|.	9.7144|9.7144	0.40265|0.40265	0.0:0.0796:0.0:0.9204|0.0:0.0796:0.0:0.9204	.|.	301|.	Q99574|.	NEUS_HUMAN|.	N|K	301;301;49|9	ENSP00000397373:I301N;ENSP00000295777:I301N|.	ENSP00000295777:I301N|.	I|N	+|+	2|3	0|2	SERPINI1|SERPINI1	169007746|169007746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	3.140000|3.140000	0.50585|0.50585	0.875000|0.875000	0.35847|0.35847	-0.254000|-0.254000	0.11334|0.11334	ATT|AAT		0.338	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			67	235	0	0	0	0	67	235				
LRRIQ4	344657	broad.mit.edu	37	3	169540249	169540249	+	Silent	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:169540249C>T	ENST00000340806.6	+	1	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	180										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGAAGTTTTCCCCCAGGAGC	0.517																																						uc003fgb.2		NA																	0					0						c.(538-540)TTC>TTT		leucine-rich repeats and IQ motif containing 4							63.0	65.0	64.0					3																	169540249		1881	4110	5991	SO:0001819	synonymous_variant	344657							g.chr3:169540249C>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.540C>T	3.37:g.169540249C>T							p.F180F	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	540	+			180			LRR 7.			Silent	SNP	ENST00000340806.6	37	c.540C>T	CCDS46951.1																																																																																				0.517	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		29	262	0	0	0	0	29	262				
SKIL	6498	broad.mit.edu	37	3	170102443	170102443	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:170102443A>G	ENST00000458537.3	+	3	2028	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	SKIL_ENST00000259119.4_Missense_Mutation_p.K440R|SKIL_ENST00000426052.2_Missense_Mutation_p.K420R|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	440					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGTCAGAGAAGGCTCACAGT	0.398																																						uc003fgu.2		NA																	0				ovary(2)|skin(1)	3						c.(1318-1320)AAG>AGG		SKI-like isoform 1							153.0	146.0	148.0					3																	170102443		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170102443A>G	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1319A>G	3.37:g.170102443A>G	ENSP00000415243:p.Lys440Arg					SKIL_uc011bps.1_Missense_Mutation_p.K420R|SKIL_uc003fgv.2_Intron|SKIL_uc003fgw.2_Missense_Mutation_p.K440R	p.K440R	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		4	2031	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		440					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1319A>G	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420056	0.42918	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000458537	D;D;D	0.91843	-2.92;-2.91;-2.92	5.84	4.65	0.58169	.	0.434976	0.28414	N	0.015424	D	0.91171	0.7219	L	0.53249	1.67	0.38195	D	0.940022	D	0.60575	0.988	P	0.50049	0.629	D	0.89195	0.3553	10	0.18276	T	0.48	-15.9959	13.3411	0.60545	0.8683:0.1317:0.0:0.0	.	440	P12757	SKIL_HUMAN	R	440;420;440	ENSP00000259119:K440R;ENSP00000406520:K420R;ENSP00000415243:K440R	ENSP00000259119:K440R	K	+	2	0	SKIL	171585137	0.997000	0.39634	0.988000	0.46212	0.702000	0.40608	3.620000	0.54203	1.107000	0.41642	0.528000	0.53228	AAG		0.398	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		77	401	0	0	0	0	77	401				
PEX5L	51555	broad.mit.edu	37	3	179592166	179592166	+	Missense_Mutation	SNP	G	G	C	rs139208096		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:179592166G>C	ENST00000467460.1	-	7	1005	c.675C>G	c.(673-675)agC>agG	p.S225R	PEX5L_ENST00000263962.8_Missense_Mutation_p.S223R|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.S33R|PEX5L_ENST00000392649.3_Missense_Mutation_p.S117R|PEX5L_ENST00000476138.1_Missense_Mutation_p.S182R|PEX5L_ENST00000485199.1_Missense_Mutation_p.S190R|PEX5L_ENST00000472994.1_Missense_Mutation_p.S166R|PEX5L_ENST00000464614.1_Missense_Mutation_p.S117R|PEX5L_ENST00000465751.1_Missense_Mutation_p.S201R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(673-675)AGC>AGG		peroxisomal biogenesis factor 5-like							121.0	117.0	118.0					3																	179592166		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592166G>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.675C>G	3.37:g.179592166G>C	ENSP00000419975:p.Ser225Arg					PEX5L_uc011bqd.1_Missense_Mutation_p.S182R|PEX5L_uc011bqe.1_Missense_Mutation_p.S33R|PEX5L_uc011bqf.1_Missense_Mutation_p.S117R|PEX5L_uc003fkj.1_Missense_Mutation_p.S190R|PEX5L_uc010hxd.1_Missense_Mutation_p.S223R|PEX5L_uc011bqg.1_Missense_Mutation_p.S201R|PEX5L_uc011bqh.1_Missense_Mutation_p.S166R	p.S225R	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	805	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		225					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.675C>G	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701581	0.30142	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640	D;D;D;D;D;D;D;D;D	0.88277	-2.35;-2.36;-2.33;-2.29;-2.32;-2.34;-2.34;-2.29;-2.34	5.55	-5.44	0.02624	.	0.284411	0.38272	N	0.001759	T	0.77611	0.4156	L	0.29908	0.895	0.34105	D	0.662318	B;B;B;P;P;P	0.42620	0.307;0.307;0.451;0.785;0.785;0.678	B;B;B;B;B;B	0.37508	0.091;0.091;0.097;0.252;0.252;0.128	T	0.75545	-0.3280	10	0.66056	D	0.02	-10.18	11.6215	0.51121	0.2745:0.1055:0.6199:0.0	.	166;201;117;223;190;225	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	225;223;190;223;117;33;182;113;166;117;201;33;33	ENSP00000419975:S225R;ENSP00000263962:S223R;ENSP00000418440:S190R;ENSP00000376420:S117R;ENSP00000418665:S33R;ENSP00000420555:S182R;ENSP00000418054:S166R;ENSP00000417270:S117R;ENSP00000419348:S201R	ENSP00000263962:S223R	S	-	3	2	PEX5L	181074860	0.297000	0.24408	0.962000	0.40283	0.965000	0.64279	-0.573000	0.05874	-0.600000	0.05790	-0.312000	0.09012	AGC		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		75	202	0	0	0	0	75	202				
IQCG	84223	broad.mit.edu	37	3	197619560	197619560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr3:197619560A>G	ENST00000265239.6	-	10	1458	c.1034T>C	c.(1033-1035)cTa>cCa	p.L345P	IQCG_ENST00000455191.1_Missense_Mutation_p.L345P|RNU6-858P_ENST00000362436.1_RNA	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	345						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAGAGCATTTAGTTCATTCTG	0.438																																						uc003fyo.2		NA																	0					0						c.(1033-1035)CTA>CCA		IQ motif containing G							385.0	349.0	361.0					3																	197619560		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197619560A>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1034T>C	3.37:g.197619560A>G	ENSP00000265239:p.Leu345Pro					IQCG_uc003fyn.2_Missense_Mutation_p.L247P|IQCG_uc003fyp.2_Missense_Mutation_p.L345P|IQCG_uc003fym.2_Missense_Mutation_p.L46P	p.L345P	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	9	1180	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		345					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.1034T>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221747	0.79464	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.57107	0.42;0.42	5.69	5.69	0.88448	.	0.105823	0.37261	N	0.002178	T	0.74199	0.3685	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77872	-0.2426	10	0.66056	D	0.02	-9.3492	15.6474	0.77065	1.0:0.0:0.0:0.0	.	345	Q9H095	IQCG_HUMAN	P	345	ENSP00000265239:L345P;ENSP00000407736:L345P	ENSP00000265239:L345P	L	-	2	0	IQCG	199103957	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.032000	0.76498	2.180000	0.69256	0.524000	0.50904	CTA		0.438	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		91	631	0	0	0	0	91	631				
ANK2	287	broad.mit.edu	37	4	114277023	114277023	+	Missense_Mutation	SNP	G	G	A	rs372545180		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:114277023G>A	ENST00000357077.4	+	38	7302	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2384N|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2417					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTAGCCGAGATAGCGAAGT	0.498																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(7249-7251)GAT>AAT		ankyrin 2 isoform 1							60.0	61.0	61.0					4																	114277023		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114277023G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7249G>A	4.37:g.114277023G>A	ENSP00000349588:p.Asp2417Asn					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.D2432N	p.D2417N	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7349	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2384					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7249G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906065	0.72868	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.70399	-0.47;-0.48	6.06	5.22	0.72569	.	0.203180	0.33553	N	0.004783	T	0.73265	0.3565	L	0.49350	1.555	0.80722	D	1	B;D	0.63046	0.006;0.992	B;P	0.54270	0.011;0.747	T	0.72846	-0.4169	9	.	.	.	.	11.4858	0.50352	0.1369:0.0:0.8631:0.0	.	2384;2417	Q01484;Q01484-4	ANK2_HUMAN;.	N	2417;2384	ENSP00000349588:D2417N;ENSP00000264366:D2384N	.	D	+	1	0	ANK2	114496472	1.000000	0.71417	0.022000	0.16811	0.968000	0.65278	5.208000	0.65203	1.574000	0.49760	0.655000	0.94253	GAT		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		18	24	0	0	0	0	18	24				
TIGD4	201798	broad.mit.edu	37	4	153691671	153691671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:153691671C>T	ENST00000304337.2	-	2	1306	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	162						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTTTGGTACCAGACAGTCG	0.363																																						uc003imy.2		NA																	0				ovary(1)	1						c.(484-486)TGG>TGA		tigger transposable element derived 4							40.0	43.0	42.0					4																	153691671		2197	4296	6493	SO:0001587	stop_gained	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691671C>T	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.486G>A	4.37:g.153691671C>T	ENSP00000355162:p.Trp162*						p.W162*	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	1268	-	all_hematologic(180;0.093)		162					Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	c.486G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	43	9.851101	0.99279	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.03	6.03	0.97812	.	0.000000	0.46758	D	0.000270	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5451	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000355162:W162X	W	-	3	0	TIGD4	153911121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	TGG		0.363	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		24	21	0	0	0	0	24	21				
TKTL2	84076	broad.mit.edu	37	4	164393621	164393621	+	Silent	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:164393621C>G	ENST00000280605.3	-	1	1426	c.1266G>C	c.(1264-1266)ggG>ggC	p.G422G		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	422						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGATACCCCACAGTGGG	0.478																																						uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1264-1266)GGG>GGC		transketolase-like 2							47.0	49.0	48.0					4																	164393621		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393621C>G	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1266G>C	4.37:g.164393621C>G							p.G422G	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1427	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	422					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.1266G>C	CCDS3805.1																																																																																				0.478	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		26	21	0	0	0	0	26	21				
SEMA5A	9037	broad.mit.edu	37	5	9202097	9202097	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:9202097T>C	ENST00000382496.5	-	9	1567	c.902A>G	c.(901-903)gAt>gGt	p.D301G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	301	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATAGATCAAATCCAGCTCAGG	0.438																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(901-903)GAT>GGT		semaphorin 5A precursor							66.0	65.0	65.0					5																	9202097		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202097T>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.902A>G	5.37:g.9202097T>C	ENSP00000371936:p.Asp301Gly						p.D301G	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			9	1614	-			301			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.902A>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750355	0.69533	.	.	ENSG00000112902	ENST00000382496	T	0.22945	1.93	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048873	0.85682	D	0.000000	T	0.44265	0.1285	L	0.61218	1.895	0.48901	D	0.999724	D	0.59767	0.986	D	0.64237	0.923	T	0.20140	-1.0284	10	0.23302	T	0.38	.	14.1538	0.65405	0.0:0.0:0.0:1.0	.	301	Q13591	SEM5A_HUMAN	G	301	ENSP00000371936:D301G	ENSP00000371936:D301G	D	-	2	0	SEMA5A	9255097	1.000000	0.71417	0.865000	0.33974	0.993000	0.82548	5.777000	0.68931	2.227000	0.72691	0.533000	0.62120	GAT		0.438	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			28	49	0	0	0	0	28	49				
DNAH5	1767	broad.mit.edu	37	5	13876803	13876803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:13876803G>T	ENST00000265104.4	-	22	3490	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1129	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTGGTGGAGTTGATAAT	0.383									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3385-3387)TCC>TAC		dynein, axonemal, heavy chain 5							124.0	126.0	125.0					5																	13876803		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13876803G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3386C>A	5.37:g.13876803G>T	ENSP00000265104:p.Ser1129Tyr						p.S1129Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			22	3428	-	Lung NSC(4;0.00476)		1129			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3386C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288864	0.80914	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.6	5.6	0.85130	.	0.056146	0.64402	D	0.000001	T	0.52108	0.1714	M	0.88570	2.965	0.80722	D	1	P	0.40834	0.73	P	0.49528	0.614	T	0.58188	-0.7680	10	0.72032	D	0.01	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	1129	Q8TE73	DYH5_HUMAN	Y	1129	ENSP00000265104:S1129Y	ENSP00000265104:S1129Y	S	-	2	0	DNAH5	13929803	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	9.094000	0.94168	2.806000	0.96561	0.655000	0.94253	TCC		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	67	1	0	2.52e-20	3e-20	20	67				
PDZD2	23037	broad.mit.edu	37	5	32088330	32088330	+	Silent	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:32088330G>T	ENST00000438447.1	+	20	5164	c.4776G>T	c.(4774-4776)tcG>tcT	p.S1592S	PDZD2_ENST00000282493.3_Silent_p.S1592S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1592					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGATCCTTCGGAGTCAGAAG	0.577																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4774-4776)TCG>TCT		PDZ domain containing 2							98.0	102.0	101.0					5																	32088330		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088330G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4776G>T	5.37:g.32088330G>T						PDZD2_uc003jhm.2_Silent_p.S1592S	p.S1592S	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	5164	+			1592					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.4776G>T	CCDS34137.1																																																																																				0.577	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			60	97	1	0	2.67e-34	3.21e-34	60	97				
MAP3K1	4214	broad.mit.edu	37	5	56167806	56167806	+	Silent	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:56167806A>T	ENST00000399503.3	+	7	1371	c.1371A>T	c.(1369-1371)acA>acT	p.T457T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAAGTCTTACAGTGTGTGAAG	0.428																																						uc003jqw.3		NA																	0				ovary(1)|skin(1)	2						c.(1369-1371)ACA>ACT		mitogen-activated protein kinase kinase kinase							125.0	128.0	127.0					5																	56167806		1938	4147	6085	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56167806A>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1371A>T	5.37:g.56167806A>T							p.T457T	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1872	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	457			RING-type.			Silent	SNP	ENST00000399503.3	37	c.1371A>T	CCDS43318.1																																																																																				0.428	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		27	30	0	0	0	0	27	30				
PAPD4	167153	broad.mit.edu	37	5	78936938	78936938	+	Silent	SNP	T	T	C	rs142919591	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:78936938T>C	ENST00000296783.3	+	7	890	c.591T>C	c.(589-591)ctT>ctC	p.L197L	PAPD4_ENST00000428308.2_Silent_p.L197L|PAPD4_ENST00000453514.1_Silent_p.L197L|PAPD4_ENST00000504233.1_Silent_p.L197L|PAPD4_ENST00000423041.2_Silent_p.L197L			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	197					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAAGCAGACTTTTTTTGGTTG	0.323													T|||	10	0.00199681	0.0	0.0	5008	,	,		15683	0.0		0.0099	False		,,,				2504	0.0					uc010jae.1		NA																	0				ovary(1)	1						c.(589-591)CTT>CTC		PAP associated domain containing 4		T	,,	2,4402	2.1+/-5.4	0,2,2200	135.0	141.0	139.0		591,591,591	-3.7	0.9	5	dbSNP_134	139	42,8554	22.2+/-67.0	0,42,4256	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD4	NM_001114393.1,NM_001114394.1,NM_173797.3	,,	0,44,6456	CC,CT,TT		0.4886,0.0454,0.3385	,,	197/485,197/485,197/485	78936938	44,12956	2202	4298	6500	SO:0001819	synonymous_variant	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78936938T>C	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.591T>C	5.37:g.78936938T>C						PAPD4_uc003kgb.2_Silent_p.L197L|PAPD4_uc010jaf.1_Silent_p.L197L|PAPD4_uc003kga.2_Silent_p.L197L|PAPD4_uc003kfz.2_Silent_p.L197L	p.L197L	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	7	1009	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	197					Q86WZ2|Q8N927	Silent	SNP	ENST00000296783.3	37	c.591T>C	CCDS4048.1																																																																																				0.323	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		8	129	0	0	0	0	8	129				
PCDHB2	56133	broad.mit.edu	37	5	140475050	140475051	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140475050_140475051GG>TA	ENST00000194155.4	+	1	824_825	c.676_677GG>TA	c.(676-678)GGc>TAc	p.G226Y		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	226	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAGGTCCGGCACGGCCCTG	0.579																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(676-678)GGC>TAC		protocadherin beta 2 precursor																																				SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475050_140475051GG>TA	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	Exception_encountered	5.37:g.140475050_140475051delinsTA	ENSP00000194155:p.Gly226Tyr					PCDHB2_uc003lim.1_5'UTR	p.G226Y	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	814_815	+			226			Extracellular (Potential).|Cadherin 2.		Q4KMU1	Missense_Mutation	DNP	ENST00000194155.4	37	c.676_677GG>TA	CCDS4244.1																																																																																				0.579	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		17	34	0	0	0	0	17	34				
PCDHGA4	56111	broad.mit.edu	37	5	140735600	140735600	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:140735600C>A	ENST00000571252.1	+	1	833	c.833C>A	c.(832-834)aCg>aAg	p.T278K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACGTGACGTATTCTTTC	0.458																																						uc003ljq.1		NA																	0					0						c.(832-834)ACG>AAG		protocadherin gamma subfamily A, 4 isoform 1							47.0	49.0	48.0					5																	140735600		1956	4146	6102	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735600C>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.833C>A	5.37:g.140735600C>A	ENSP00000458570:p.Thr278Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.T278K	p.T278K	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	833	+			278			Cadherin 3.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.833C>A	CCDS58979.1																																																																																				0.458	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		11	25	1	0	1.59e-06	1.75e-06	11	25				
FAF2	23197	broad.mit.edu	37	5	175913467	175913467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr5:175913467G>A	ENST00000261942.6	+	3	297	c.244G>A	c.(244-246)Gtt>Att	p.V82I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	82					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTACAGCTATGTTGTCTCAAG	0.443																																						uc003mej.3		NA																	0				ovary(1)	1						c.(244-246)GTT>ATT		UBX domain containing 8							136.0	115.0	122.0					5																	175913467		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175913467G>A	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.244G>A	5.37:g.175913467G>A	ENSP00000261942:p.Val82Ile						p.V82I	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			3	297	+			82					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.244G>A	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534182	0.64972	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	6.06	6.06	0.98353	.	0.105089	0.64402	D	0.000005	T	0.52354	0.1729	L	0.27053	0.805	0.50632	D	0.99988	B	0.09022	0.002	B	0.06405	0.002	T	0.42310	-0.9459	8	.	.	.	-17.7321	20.6243	0.99512	0.0:0.0:1.0:0.0	.	82	Q96CS3	FAF2_HUMAN	I	82	.	.	V	+	1	0	FAF2	175846073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.244000	0.78228	2.879000	0.98667	0.650000	0.86243	GTT		0.443	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		42	65	0	0	0	0	42	65				
RREB1	6239	broad.mit.edu	37	6	7231221	7231221	+	Silent	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:7231221G>A	ENST00000349384.6	+	10	3203	c.2889G>A	c.(2887-2889)gcG>gcA	p.A963A	RREB1_ENST00000379938.2_Silent_p.A963A|RREB1_ENST00000334984.6_Silent_p.A963A|RREB1_ENST00000379933.3_Silent_p.A963A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	963					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGAGGAGGCGGGGAGCAGCG	0.632																																						uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2887-2889)GCG>GCA		ras responsive element binding protein 1 isoform							27.0	29.0	28.0					6																	7231221		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231221G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2889G>A	6.37:g.7231221G>A						RREB1_uc003mxb.2_Silent_p.A963A|RREB1_uc010jnx.2_Silent_p.A963A	p.A963A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3279	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	963					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2889G>A	CCDS34336.1																																																																																				0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			17	12	0	0	0	0	17	12				
SASH1	23328	broad.mit.edu	37	6	148840966	148840966	+	Silent	SNP	G	G	A	rs138202713	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:148840966G>A	ENST00000367467.3	+	10	1621	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	382					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AAAAGGCCCAGAAAGTGTCCC	0.547																																						uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(1144-1146)CAG>CAA		SAM and SH3 domain containing 1							19.0	22.0	21.0					6																	148840966		2203	4299	6502	SO:0001819	synonymous_variant	23328						protein binding	g.chr6:148840966G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1146G>A	6.37:g.148840966G>A						SASH1_uc011eeb.1_Silent_p.Q143Q	p.Q382Q	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	10	1621	+		Ovarian(120;0.0169)	382					Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	c.1146G>A	CCDS5212.1																																																																																				0.547	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	21	0	0	0	0	4	21				
MTHFD1L	25902	broad.mit.edu	37	6	151293189	151293189	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:151293189T>A	ENST00000367321.3	+	20	2394	c.2120T>A	c.(2119-2121)tTt>tAt	p.F707Y	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	707	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAAGAAGGATTTGTAGGTAAG	0.398																																						uc003qob.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2119-2121)TTT>TAT		methylenetetrahydrofolate dehydrogenase (NADP+							87.0	82.0	84.0					6																	151293189		2203	4300	6503	SO:0001583	missense	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151293189T>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2120T>A	6.37:g.151293189T>A	ENSP00000356290:p.Phe707Tyr					MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Missense_Mutation_p.F708Y|MTHFD1L_uc003qoc.2_Missense_Mutation_p.F655Y	p.F707Y	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	20	2388	+		Ovarian(120;0.128)	707			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	c.2120T>A	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	T	8.073	0.770737	0.15983	.	.	ENSG00000120254	ENST00000367321	T	0.17370	2.28	5.8	4.63	0.57726	.	0.164644	0.56097	D	0.000031	T	0.01870	0.0059	N	0.03967	-0.31	0.80722	D	1	P;B;B	0.35628	0.513;0.015;0.068	B;B;B	0.31869	0.137;0.107;0.093	T	0.29941	-0.9995	10	0.06891	T	0.86	.	10.0319	0.42105	0.2683:0.0:0.0:0.7317	.	708;462;707	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Y	707	ENSP00000356290:F707Y	ENSP00000356290:F707Y	F	+	2	0	MTHFD1L	151334882	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.040000	0.49799	1.011000	0.39340	0.533000	0.62120	TTT		0.398	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		28	56	0	0	0	0	28	56				
TIAM2	26230	broad.mit.edu	37	6	155451295	155451295	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr6:155451295C>T	ENST00000461783.3	+	6	2211	c.938C>T	c.(937-939)cCc>cTc	p.P313L	TIAM2_ENST00000529824.2_Missense_Mutation_p.P313L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P313L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.P313L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P313L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	313					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCTCTCCCCCTCAGGTATC	0.557																																						uc003qqb.2		NA																	0				ovary(3)|breast(1)	4						c.(937-939)CCC>CTC		T-cell lymphoma invasion and metastasis 2							67.0	62.0	63.0					6																	155451295		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451295C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.938C>T	6.37:g.155451295C>T	ENSP00000437188:p.Pro313Leu					TIAM2_uc003qqe.2_Missense_Mutation_p.P313L	p.P313L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2211	+		Ovarian(120;0.196)	313					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.938C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694519	0.48202	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05925	3.47;3.37;3.43;3.47;3.47;3.43	4.85	4.85	0.62838	.	0.060879	0.64402	D	0.000002	T	0.11965	0.0291	M	0.67953	2.075	0.80722	D	1	D	0.61080	0.989	P	0.56163	0.793	T	0.00975	-1.1494	10	0.59425	D	0.04	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	313	Q8IVF5	TIAM2_HUMAN	L	313;559;313;313;313;313;313	ENSP00000437188:P313L;ENSP00000434901:P313L;ENSP00000407746:P313L;ENSP00000327315:P313L;ENSP00000353528:P313L;ENSP00000433348:P313L	ENSP00000327315:P313L	P	+	2	0	TIAM2	155492987	0.296000	0.24398	0.008000	0.14137	0.006000	0.05464	5.003000	0.63959	2.401000	0.81631	0.655000	0.94253	CCC		0.557	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		27	51	0	0	0	0	27	51				
ZNF804B	219578	broad.mit.edu	37	7	88962841	88962841	+	Missense_Mutation	SNP	G	G	A	rs139327261	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr7:88962841G>A	ENST00000333190.4	+	4	1154	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	182							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAACAGCGGTCCACCATG	0.418										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(544-546)CGG>CAG		zinc finger protein 804B		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	114.0	110.0	112.0		545	4.4	0.7	7	dbSNP_134	112	0,8600		0,0,4300	no	missense	ZNF804B	NM_181646.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	182/1350	88962841	2,13004	2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962841G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.545G>A	7.37:g.88962841G>A	ENSP00000329638:p.Arg182Gln	HNSCC(36;0.09)					p.R182Q	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1083	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		182					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.545G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	7.945	0.743602	0.15642	4.54E-4	0.0	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.3	4.42	0.53409	.	0.116218	0.39210	N	0.001436	T	0.02455	0.0075	N	0.15975	0.35	0.22737	N	0.998798	B	0.33379	0.41	B	0.15052	0.012	T	0.46428	-0.9192	10	0.34782	T	0.22	-2.3836	7.1878	0.25809	0.249:0.0:0.751:0.0	.	182	A4D1E1	Z804B_HUMAN	Q	182	ENSP00000329638:R182Q	ENSP00000329638:R182Q	R	+	2	0	ZNF804B	88800777	0.588000	0.26799	0.733000	0.30861	0.781000	0.44180	2.548000	0.45794	1.488000	0.48433	0.650000	0.86243	CGG		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		33	69	0	0	0	0	33	69				
SLC7A2	6542	broad.mit.edu	37	8	17407860	17407860	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:17407860T>C	ENST00000494857.1	+	6	967	c.749T>C	c.(748-750)aTg>aCg	p.M250T	SLC7A2_ENST00000398090.3_Missense_Mutation_p.M290T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M290T|SLC7A2_ENST00000470360.1_Missense_Mutation_p.M290T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M250T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	250					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGGCTTTATGCCTTATGGC	0.448																																						uc011kyc.1		NA																	0				ovary(2)|skin(1)	3						c.(748-750)ATG>ACG		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						215.0	171.0	186.0					8																	17407860		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17407860T>C	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.749T>C	8.37:g.17407860T>C	ENSP00000419140:p.Met250Thr					SLC7A2_uc011kyd.1_Missense_Mutation_p.M290T|SLC7A2_uc011kye.1_Missense_Mutation_p.M290T|SLC7A2_uc011kyf.1_Missense_Mutation_p.M250T	p.M250T	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	918	+			250			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.749T>C	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520629	0.64747	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.62	5.62	0.85841	Amino acid permease domain (1);	0.153604	0.64402	D	0.000001	D	0.91710	0.7379	L	0.49350	1.555	0.58432	D	0.999992	B;P;P	0.48764	0.313;0.563;0.915	B;B;P	0.58266	0.124;0.205;0.836	D	0.92253	0.5810	10	0.62326	D	0.03	.	16.1326	0.81454	0.0:0.0:0.0:1.0	.	290;290;250	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	250;250;290;290;290	ENSP00000419140:M250T;ENSP00000430464:M250T;ENSP00000419873:M290T;ENSP00000004531:M290T;ENSP00000381164:M290T	ENSP00000004531:M290T	M	+	2	0	SLC7A2	17452238	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	ATG		0.448	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		35	18	0	0	0	0	35	18				
KCNU1	157855	broad.mit.edu	37	8	36766941	36766941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:36766941C>G	ENST00000399881.3	+	21	2256	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	740					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTTGAGAGCCAGCAACTAT	0.458																																						uc010lvw.2		NA																	0				ovary(1)	1						c.(2218-2220)GCC>GGC		potassium channel, subfamily U, member 1							199.0	195.0	196.0					8																	36766941		1889	4109	5998	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766941C>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2219C>G	8.37:g.36766941C>G	ENSP00000382770:p.Ala740Gly					KCNU1_uc003xjw.2_RNA	p.A740G	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2306	+			740			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000399881.3	37	c.2219C>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	33	5.244978	0.95272	.	.	ENSG00000215262	ENST00000399881	T	0.55413	0.52	5.8	5.8	0.92144	.	0.000000	0.37715	U	0.001963	T	0.69922	0.3165	M	0.85462	2.755	0.80722	D	1	D	0.58268	0.982	P	0.51415	0.669	T	0.74754	-0.3558	10	0.62326	D	0.03	-9.6585	19.6593	0.95859	0.0:1.0:0.0:0.0	.	740	A8MYU2	KCNU1_HUMAN	G	740	ENSP00000382770:A740G	ENSP00000382770:A740G	A	+	2	0	KCNU1	36886099	1.000000	0.71417	0.972000	0.41901	0.828000	0.46876	7.228000	0.78079	2.745000	0.94114	0.655000	0.94253	GCC		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		93	230	0	0	0	0	93	230				
SLCO5A1	81796	broad.mit.edu	37	8	70667725	70667725	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:70667725T>C	ENST00000260126.4	-	4	1898	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K398E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K398E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	398						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTGTTTGATTTCTCCTTCAGA	0.358																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1192-1194)AAA>GAA		solute carrier organic anion transporter family,							136.0	116.0	123.0					8																	70667725		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667725T>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1192A>G	8.37:g.70667725T>C	ENSP00000260126:p.Lys398Glu					SLCO5A1_uc010lzb.2_Missense_Mutation_p.K398E|SLCO5A1_uc011lfa.1_Intron|SLCO5A1_uc003xyk.2_Missense_Mutation_p.K398E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.K398E	p.K398E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1899	-	Breast(64;0.0654)		398			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1192A>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708674	0.48517	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38240	1.15;1.15;1.15	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.139200	0.07183	N	0.854362	T	0.45013	0.1321	N	0.17872	0.535	0.39925	D	0.974215	D;P;B;B	0.63046	0.992;0.489;0.042;0.36	D;B;B;B	0.63283	0.913;0.176;0.037;0.161	T	0.11060	-1.0603	10	0.16896	T	0.51	.	15.5495	0.76137	0.0:0.0:0.0:1.0	.	398;398;398;398	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	E	398	ENSP00000260126:K398E;ENSP00000434422:K398E;ENSP00000431611:K398E	ENSP00000260126:K398E	K	-	1	0	SLCO5A1	70830279	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	7.633000	0.83260	2.248000	0.74166	0.460000	0.39030	AAA		0.358	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		31	40	0	0	0	0	31	40				
COL14A1	7373	broad.mit.edu	37	8	121228628	121228628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:121228628G>A	ENST00000297848.3	+	14	1906	c.1636G>A	c.(1636-1638)Gtt>Att	p.V546I	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.V546I|COL14A1_ENST00000247781.3_Missense_Mutation_p.V451I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCTCCAATGTTGGCTCTAA	0.353																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1636-1638)GTT>ATT		collagen, type XIV, alpha 1 precursor							113.0	104.0	107.0					8																	121228628		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121228628G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1636G>A	8.37:g.121228628G>A	ENSP00000297848:p.Val546Ile					COL14A1_uc003yoy.2_Missense_Mutation_p.V224I|COL14A1_uc010mde.1_Missense_Mutation_p.V224I	p.V546I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		14	1901	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		546			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1636G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.638253|1.638253	0.29157|0.29157	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.29|5.29	-2.27|-2.27	0.06846|0.06846	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.595348	.|0.17949	.|N	.|0.156594	T|T	0.35189|0.35189	0.0923|0.0923	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12013	.|0.005;0.002	.|B;B	.|0.18263	.|0.021;0.017	T|T	0.08680|0.08680	-1.0710|-1.0710	5|10	.|0.22109	.|T	.|0.4	.|.	13.1445|13.1445	0.59452|0.59452	0.4941:0.0:0.5059:0.0|0.4941:0.0:0.5059:0.0	.|.	.|546;546	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	Y|I	302|546;546;451;359	.|ENSP00000311809:V546I;ENSP00000297848:V546I;ENSP00000247781:V451I;ENSP00000409461:V359I	.|ENSP00000247781:V451I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121297809|121297809	0.032000|0.032000	0.19561|0.19561	0.442000|0.442000	0.26870|0.26870	0.839000|0.839000	0.47603|0.47603	-0.042000|-0.042000	0.12063|0.12063	-1.082000|-1.082000	0.03101|0.03101	-0.797000|-0.797000	0.03246|0.03246	TGT|GTT		0.353	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		49	65	0	0	0	0	49	65				
FAM135B	51059	broad.mit.edu	37	8	139277978	139277978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:139277978A>G	ENST00000395297.1	-	4	435	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	89										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAACTCGGAAGACCACAGCA	0.488										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(265-267)TTC>CTC		hypothetical protein LOC51059							103.0	102.0	102.0					8																	139277978		1934	4155	6089	SO:0001583	missense	51059							g.chr8:139277978A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.265T>C	8.37:g.139277978A>G	ENSP00000378710:p.Phe89Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.F89L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	436	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		89					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.265T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517075	0.85495	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.38560	1.13	5.92	5.92	0.95590	.	0.000000	0.64402	U	0.000001	T	0.67249	0.2873	M	0.84948	2.725	0.46437	D	0.999044	D	0.76494	0.999	D	0.80764	0.994	T	0.72839	-0.4171	10	0.87932	D	0	-18.9373	12.7549	0.57328	1.0:0.0:0.0:0.0	.	89	Q49AJ0	F135B_HUMAN	L	89	ENSP00000378710:F89L	ENSP00000160713:F89L	F	-	1	0	FAM135B	139347160	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.428000	0.80296	2.266000	0.75297	0.533000	0.62120	TTC		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		29	50	0	0	0	0	29	50				
JRK	8629	broad.mit.edu	37	8	143745934	143745934	+	RNA	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr8:143745934C>A	ENST00000507178.2	-	0	1876							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GCGCCCgcagctgccccactt	0.706																																						uc003ywo.2		NA																	0					0						c.(1540-1542)CAG>CAT		jerky isoform b							12.0	16.0	15.0					8																	143745934		2148	4261	6409			8629							g.chr8:143745934C>A	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143745934C>A						JRK_uc003ywp.2_Missense_Mutation_p.Q514H|JRK_uc010mew.1_Missense_Mutation_p.S515I	p.Q514H	NM_001077527	NP_001070995					3	2056	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	Missense_Mutation	SNP	ENST00000507178.2	37	c.1542G>T																																																																																					0.706	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724		4	15	1	0	0.00909568	0.00949835	4	15				
GLIS3	169792	broad.mit.edu	37	9	4117821	4117821	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:4117821T>C	ENST00000324333.10	-	3	1385	c.1192A>G	c.(1192-1194)Aaa>Gaa	p.K398E	GLIS3_ENST00000381971.3_Missense_Mutation_p.K553E	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	398					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCAGCAGTTTATAGCGGGCG	0.567																																						uc003zhw.1		NA																	0				ovary(1)	1						c.(1192-1194)AAA>GAA		GLIS family zinc finger 3 isoform b							164.0	155.0	158.0					9																	4117821		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117821T>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1192A>G	9.37:g.4117821T>C	ENSP00000325494:p.Lys398Glu					GLIS3_uc003zhx.1_Missense_Mutation_p.K553E|GLIS3_uc003zic.1_Missense_Mutation_p.K553E|GLIS3_uc003zie.1_Missense_Mutation_p.K553E|GLIS3_uc010mhh.1_Missense_Mutation_p.K428E|GLIS3_uc003zid.1_Missense_Mutation_p.K331E|GLIS3_uc010mhi.1_Missense_Mutation_p.K360E|GLIS3_uc003zif.1_Missense_Mutation_p.K331E|GLIS3_uc003zig.1_Missense_Mutation_p.K397E|GLIS3_uc003zih.1_Missense_Mutation_p.K331E|GLIS3_uc003zhy.1_Missense_Mutation_p.K331E|GLIS3_uc003zhz.1_Missense_Mutation_p.K331E|GLIS3_uc003zib.1_Missense_Mutation_p.K397E|GLIS3_uc010mhg.1_Missense_Mutation_p.K331E	p.K398E	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1386	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	398			C2H2-type 2; atypical.		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1192A>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517452	0.85495	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;T	0.91237	-2.81;2.47	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000040	D	0.91260	0.7245	N	0.17082	0.46	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.997;1.0;1.0;0.998;0.997	D	0.92826	0.6276	10	0.62326	D	0.03	.	15.9595	0.79918	0.0:0.0:0.0:1.0	.	61;66;66;553;398	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	E	398;553	ENSP00000325494:K398E;ENSP00000371398:K553E	ENSP00000325494:K398E	K	-	1	0	GLIS3	4107821	1.000000	0.71417	0.914000	0.36105	0.869000	0.49853	8.013000	0.88655	2.178000	0.69098	0.533000	0.62120	AAA		0.567	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		69	48	0	0	0	0	69	48				
ZNF484	83744	broad.mit.edu	37	9	95610231	95610231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:95610231C>T	ENST00000375495.3	-	5	986	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.E244K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E282K|ZNF484_ENST00000332591.6_Missense_Mutation_p.E244K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E280*(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCATGGCATTCATGCTGCTTT	0.428																																						uc004asu.1		NA																	1	Substitution - Nonsense(1)		cervix(1)		0						c.(838-840)GAA>AAA		zinc finger protein 484 isoform a							96.0	91.0	93.0					9																	95610231		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610231C>T	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.838G>A	9.37:g.95610231C>T	ENSP00000364645:p.Glu280Lys					ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.E282K|ZNF484_uc010mrb.1_Missense_Mutation_p.E244K|ZNF484_uc004asv.1_Missense_Mutation_p.E244K	p.E280K	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	987	-			280			C2H2-type 2; degenerate.		B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.838G>A	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.670	-0.277868	0.05679	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	2.47	0.561	0.17285	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.13168	0.305	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44544	-0.9321	9	0.12103	T	0.63	.	3.8506	0.08953	0.0:0.5985:0.2514:0.1501	.	282;280	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	244;282;280;244	ENSP00000378881:E244K;ENSP00000378882:E282K;ENSP00000364645:E280K;ENSP00000364646:E244K	ENSP00000364646:E244K	E	-	1	0	ZNF484	94650052	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-3.227000	0.00549	0.133000	0.18654	-0.272000	0.10252	GAA		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		34	102	0	0	0	0	34	102				
KIAA0368	23392	broad.mit.edu	37	9	114173351	114173351	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:114173351T>G	ENST00000338205.5	-	21	2505	c.2286A>C	c.(2284-2286)aaA>aaC	p.K762N	KIAA0368_ENST00000374378.3_5'Flank|KIAA0368_ENST00000259335.4_Missense_Mutation_p.K940N|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	768					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCTCATTTTCTTTTTAG	0.418																																						uc004bfe.1		NA																	0					0						c.(2818-2820)AAA>AAC		KIAA0368 protein							270.0	255.0	260.0					9																	114173351		1921	4132	6053	SO:0001583	missense	23392							g.chr9:114173351T>G	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2286A>C	9.37:g.114173351T>G	ENSP00000339889:p.Lys762Asn						p.K940N	NM_001080398	NP_001073867					23	2820	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2820A>C		.	.	.	.	.	.	.	.	.	.	T	14.94	2.683974	0.47991	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66099	-0.19	5.21	2.64	0.31445	.	0.122259	0.53938	D	0.000047	T	0.52058	0.1711	L	0.51422	1.61	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.44267	-0.9339	10	0.52906	T	0.07	.	7.4152	0.27040	0.0:0.2848:0.0:0.7152	.	237	B3KXF2	.	N	762;940;237	ENSP00000259335:K940N	ENSP00000259335:K940N	K	-	3	2	KIAA0368	113213172	0.983000	0.35010	0.970000	0.41538	0.900000	0.52787	1.660000	0.37397	0.218000	0.20820	0.402000	0.26972	AAA		0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		188	190	0	0	0	0	188	190				
PAPPA	5069	broad.mit.edu	37	9	119065052	119065052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:119065052C>A	ENST00000328252.3	+	10	3339	c.2970C>A	c.(2968-2970)tgC>tgA	p.C990*	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Nonsense_Mutation_p.C28*	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	990					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						CCAGCCGGTGCTATTTCCATG	0.458																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(2968-2970)TGC>TGA		pregnancy-associated plasma protein A							87.0	79.0	82.0					9																	119065052		2203	4300	6503	SO:0001587	stop_gained	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065052C>A		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.2970C>A	9.37:g.119065052C>A	ENSP00000330658:p.Cys990*					PAPPA_uc011lxp.1_Nonsense_Mutation_p.C685*|PAPPA_uc011lxq.1_Nonsense_Mutation_p.C365*	p.C990*	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			10	3351	+			990					B1AMF9|Q08371|Q68G52|Q9UDK7	Nonsense_Mutation	SNP	ENST00000328252.3	37	c.2970C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	45	11.459164	0.99564	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	.	.	.	6.06	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.1656	12.1633	0.54115	0.0:0.8103:0.0:0.1897	.	.	.	.	X	990;434;28	.	ENSP00000330658:C990X	C	+	3	2	PAPPA	118104873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.296000	0.33389	1.563000	0.49615	0.650000	0.86243	TGC		0.458	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		17	74	1	0	0.00278032	0.00294949	17	74				
OLFML2A	169611	broad.mit.edu	37	9	127557384	127557384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127557384G>A	ENST00000373580.3	+	3	436	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	146					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACAAGGTGGCCTCCCAGAT	0.652																																						uc004bov.2		NA																	0					0						c.(436-438)GCC>ACC		olfactomedin-like 2A precursor							27.0	28.0	27.0					9																	127557384		2009	4168	6177	SO:0001583	missense	169611							g.chr9:127557384G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.436G>A	9.37:g.127557384G>A	ENSP00000362682:p.Ala146Thr					OLFML2A_uc010mwr.1_Intron	p.A146T	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN			3	549	+			146					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.436G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377783	0.82682	.	.	ENSG00000185585	ENST00000373580	T	0.44881	0.91	4.96	4.96	0.65561	.	0.216008	0.40144	N	0.001172	T	0.37972	0.1023	L	0.43923	1.385	0.80722	D	1	P	0.44627	0.839	B	0.39379	0.298	T	0.23013	-1.0200	10	0.39692	T	0.17	.	17.6345	0.88118	0.0:0.0:1.0:0.0	.	146	Q68BL7	OLM2A_HUMAN	T	146	ENSP00000362682:A146T	ENSP00000362682:A146T	A	+	1	0	OLFML2A	126597205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.427000	0.80284	2.669000	0.90835	0.563000	0.77884	GCC		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		5	12	0	0	0	0	5	12				
OLFML2A	169611	broad.mit.edu	37	9	127566456	127566456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127566456G>A	ENST00000373580.3	+	6	1003	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	OLFML2A_ENST00000288815.5_Missense_Mutation_p.A121T	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	335					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GCCCAACTCCGCAGAGCAGGA	0.652																																						uc004bov.2		NA																	0					0						c.(1003-1005)GCA>ACA		olfactomedin-like 2A precursor							56.0	52.0	53.0					9																	127566456		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127566456G>A	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1003G>A	9.37:g.127566456G>A	ENSP00000362682:p.Ala335Thr					OLFML2A_uc010mwr.1_Missense_Mutation_p.A299T|OLFML2A_uc004bow.2_Missense_Mutation_p.A121T	p.A335T	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN			6	1116	+			335					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1003G>A	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343621	0.41498	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580;ENST00000288815	T;T;T	0.38401	1.14;1.14;1.14	4.84	-0.913	0.10500	.	0.694765	0.14360	N	0.324481	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B;B;B	0.30033	0.266;0.001;0.014	B;B;B	0.21151	0.033;0.003;0.003	T	0.15093	-1.0449	10	0.17369	T	0.5	.	0.8529	0.01176	0.187:0.1554:0.3396:0.3179	.	299;121;335	Q5JTM7;Q68BL7-3;Q68BL7	.;.;OLM2A_HUMAN	T	299;299;335;121	ENSP00000336425:A299T;ENSP00000362682:A335T;ENSP00000288815:A121T	ENSP00000288815:A121T	A	+	1	0	OLFML2A	126606277	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	0.147000	0.16202	-0.068000	0.12953	0.563000	0.77884	GCA		0.652	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		64	43	0	0	0	0	64	43				
SCAI	286205	broad.mit.edu	37	9	127715225	127715225	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:127715225C>T	ENST00000336505.6	-	18	1740	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	SCAI_ENST00000373549.4_Missense_Mutation_p.R584Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	561					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R584Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TGGATAATTTCGTGTTTCCTG	0.358																																						uc004bpe.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1681-1683)CGA>CAA		suppressor of cancer cell invasion isoform 2							167.0	149.0	155.0					9																	127715225		1865	4104	5969	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127715225C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1682G>A	9.37:g.127715225C>T	ENSP00000336756:p.Arg561Gln					SCAI_uc004bpd.2_Missense_Mutation_p.R584Q|SCAI_uc010mwu.2_RNA	p.R561Q	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			18	1763	-			561					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1682G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066828	0.36470	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.41065	1.01;1.01	5.17	5.17	0.71159	.	0.134343	0.47852	D	0.000206	T	0.40119	0.1104	N	0.04203	-0.255	0.43047	D	0.994642	P;D	0.69078	0.934;0.997	P;D	0.69479	0.614;0.964	T	0.37709	-0.9694	10	0.13108	T	0.6	-7.4375	18.0219	0.89257	0.0:1.0:0.0:0.0	.	561;584	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	561;584	ENSP00000336756:R561Q;ENSP00000362650:R584Q	ENSP00000336756:R561Q	R	-	2	0	SCAI	126755046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.206000	0.72154	2.560000	0.86352	0.655000	0.94253	CGA		0.358	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		64	45	0	0	0	0	64	45				
MRPS2	51116	broad.mit.edu	37	9	138395504	138395504	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:138395504A>T	ENST00000371785.1	+	5	625	c.416A>T	c.(415-417)aAg>aTg	p.K139M	RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.K139M			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	139					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCCTACCGCAAGGGCATCATC	0.577																																						uc004cfv.3		NA																	0					0						c.(415-417)AAG>ATG		mitochondrial ribosomal protein S2							107.0	81.0	90.0					9																	138395504		2203	4300	6503	SO:0001583	missense	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138395504A>T	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.416A>T	9.37:g.138395504A>T	ENSP00000360850:p.Lys139Met					MRPS2_uc004cfw.3_Missense_Mutation_p.K49M|MRPS2_uc004cfx.3_Missense_Mutation_p.K54M|MRPS2_uc010nat.2_Missense_Mutation_p.K120M|uc004cfy.2_RNA	p.K139M	NM_016034	NP_057118	Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	4	490	+			139					Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	c.416A>T	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138863	0.56936	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.33216	1.42;1.42;1.42	3.8	1.41	0.22369	Ribosomal protein S2, flavodoxin-like domain (1);	0.308466	0.35677	N	0.003056	T	0.53094	0.1775	M	0.87971	2.92	0.33057	D	0.533574	D;D	0.76494	0.999;0.998	D;D	0.68192	0.956;0.939	T	0.63202	-0.6690	10	0.72032	D	0.01	-17.2148	7.5765	0.27939	0.7195:0.0:0.2805:0.0	.	153;139	Q5T8A0;Q9Y399	.;RT02_HUMAN	M	139;139;153	ENSP00000360850:K139M;ENSP00000241600:K139M;ENSP00000400082:K153M	ENSP00000241600:K139M	K	+	2	0	MRPS2	137535325	0.983000	0.35010	0.982000	0.44146	0.969000	0.65631	1.875000	0.39578	0.112000	0.17975	0.467000	0.42956	AAG		0.577	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			30	70	0	0	0	0	30	70				
ENTPD8	377841	broad.mit.edu	37	9	140327704	140327704	+	IGR	SNP	G	G	T			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr9:140327704G>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Missense_Mutation_p.A300S|NOXA1_ENST00000392815.2_Missense_Mutation_p.A244S			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGAGGACCCCGCGGGTGCTGG	0.652																																						uc004cmv.2		NA																	0					0						c.(898-900)GCG>TCG		NADPH oxidase activator 1							9.0	11.0	11.0					9																	140327704		2167	4281	6448	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327704G>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327704G>T						C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Missense_Mutation_p.A300S|NOXA1_uc010nch.2_Missense_Mutation_p.A244S	p.A300S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1033	+	all_cancers(76;0.0926)		300		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).			A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.898G>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303645	0.01353	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	D;D	0.85411	-1.9;-1.98	2.74	-3.51	0.04696	.	2.026620	0.02427	N	0.083129	T	0.68183	0.2973	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.008;0.013;0.002	B;B;B	0.17722	0.013;0.019;0.015	T	0.60954	-0.7160	10	0.07030	T	0.85	.	4.8455	0.13512	0.0:0.3418:0.2428:0.4154	.	244;300;300	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	S	300;244	ENSP00000342848:A300S;ENSP00000376562:A244S	ENSP00000342848:A300S	A	+	1	0	NOXA1	139447525	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.750000	0.00376	-0.443000	0.07180	0.561000	0.74099	GCG		0.652	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		8	11	1	0	0.00829132	0.00870371	8	11				
CNKSR2	22866	broad.mit.edu	37	X	21515965	21515965	+	Splice_Site	SNP	G	G	A			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:21515965G>A	ENST00000379510.3	+	7	777		c.e7+1		CNKSR2_ENST00000425654.2_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAGAAAATGTAAGTATTCT	0.308																																						uc004czx.1		NA																	0				large_intestine(1)|lung(1)	2						c.e7+1		connector enhancer of kinase suppressor of Ras							108.0	98.0	102.0					X																	21515965		2203	4296	6499	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21515965G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.741+1G>A	X.37:g.21515965G>A						CNKSR2_uc004czw.2_Splice_Site_p.N247_splice|CNKSR2_uc011mjn.1_Splice_Site_p.N247_splice|CNKSR2_uc011mjo.1_Splice_Site_p.N247_splice	p.N247_splice	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			7	777	+								B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37	c.741_splice	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.349784	0.82132	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3788	0.90443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNKSR2	21425886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.341000	0.97041	2.280000	0.76307	0.591000	0.81541	.		0.308	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Intron	22	10	0	0	0	0	22	10				
NXF3	56000	broad.mit.edu	37	X	102337236	102337236	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chrX:102337236A>C	ENST00000395065.3	-	9	938	c.837T>G	c.(835-837)tgT>tgG	p.C279W	NXF3_ENST00000425463.2_Missense_Mutation_p.C190W|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	279					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCTGTCCGCACACTTCTCTC	0.532																																						uc004eju.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(835-837)TGT>TGG		nuclear RNA export factor 3							438.0	294.0	343.0					X																	102337236		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337236A>C	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.837T>G	X.37:g.102337236A>C	ENSP00000378504:p.Cys279Trp					NXF3_uc010noi.1_Missense_Mutation_p.C129W|NXF3_uc011mrw.1_Missense_Mutation_p.C279W|NXF3_uc011mrx.1_Missense_Mutation_p.C190W	p.C279W	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			9	908	-			279					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.837T>G	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.010|0.010	-1.768869|-1.768869	0.00645|0.00645	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065;ENST00000425463	T|T;T	0.42131|0.39997	0.98|1.07;1.05	3.4|3.4	-6.22|-6.22	0.02058|0.02058	.|.	0.657428|0.657428	0.17954|0.17954	N|N	0.156407|0.156407	T|T	0.14270|0.14270	0.0345|0.0345	N|N	0.04148|0.04148	-0.265|-0.265	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20780	.|0.048;0.02;0.0	.|B;B;B	.|0.20384	.|0.029;0.004;0.001	T|T	0.08166|0.08166	-1.0735|-1.0735	8|10	0.26408|0.32370	T|T	0.33|0.25	0.2628|0.2628	5.6711|5.6711	0.17723|0.17723	0.256:0.3128:0.4312:0.0|0.256:0.3128:0.4312:0.0	.|.	.|279;175;279	.|B4DYI1;E9PEY7;Q9H4D5	.|.;.;NXF3_HUMAN	G|W	156|279;190	ENSP00000404017:C156G|ENSP00000378504:C279W;ENSP00000404347:C190W	ENSP00000404017:C156G|ENSP00000378504:C279W	C|C	-|-	1|3	0|2	NXF3|NXF3	102223892|102223892	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.199000|-0.199000	0.09491|0.09491	-1.605000|-1.605000	0.01593|0.01593	0.486000|0.486000	0.48141|0.48141	TGC|TGT		0.532	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		11	129	0	0	0	0	11	129				
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	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	103	NA	NA	NA	NA	7	103	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312																																						uc001tar.2		NA																	1	Insertion - Frameshift(1)		central_nervous_system(1)	ovary(5)|breast(1)|pancreas(1)	7	GRCh37	CD073590	CEP290	D	rs77980773	c.(1666-1668)ATTfs		centrosomal protein 290kDa																																				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512304_88512305insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1667dupA	12.37:g.88512314_88512314dupT	ENSP00000448012:p.Ile556fs					CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA	p.I556fs	NM_025114	NP_079390	O15078	CE290_HUMAN			17	2010_2011	-			556			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.1666_1667insA	CCDS55858.1																																																																																				0.312	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	6	NA	NA	NA	NA	3	6	---	---	---	---
CALB2	794	broad.mit.edu	37	16	71423757	71423757	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr16:71423757delC	ENST00000302628.4	+	11	882	c.805delC	c.(805-807)cccfs	p.P270fs	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	270	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CTGCAGCGAGCCCCCCATGTA	0.587																																						uc002faa.3		NA																	0					0						c.(805-807)CCCfs		calbindin 2 isoform 1							69.0	69.0	69.0					16																	71423757		2198	4300	6498	SO:0001589	frameshift_variant	794						calcium ion binding	g.chr16:71423757delC	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.805delC	16.37:g.71423757delC	ENSP00000307508:p.Pro270fs					CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_3'UTR	p.P269fs	NM_001740	NP_001731	P22676	CALB2_HUMAN			11	875	+		Ovarian(137;0.125)	269			EF-hand 6.		A8K4Y1|Q53HD2|Q96BK4	Frame_Shift_Del	DEL	ENST00000302628.4	37	c.805delC	CCDS10899.1																																																																																				0.587	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		54	113	NA	NA	NA	NA	54	113	---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12735473	12735473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:12735473delG	ENST00000343325.4	+	3	302	c.140delG	c.(139-141)tggfs	p.W47fs	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Frame_Shift_Del_p.W15fs|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGGGAAAAATGGGAAGACCCG	0.318																																						uc002mua.2		NA																	0				ovary(2)	2						c.(139-141)TGGfs		zinc finger protein 791							58.0	54.0	55.0					19																	12735473		2203	4300	6503	SO:0001589	frameshift_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12735473delG	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.140delG	19.37:g.12735473delG	ENSP00000342974:p.Trp47fs					ZNF791_uc010xml.1_Frame_Shift_Del_p.W15fs|ZNF791_uc010dyu.1_Intron|ZNF791_uc010xmm.1_Translation_Start_Site	p.W47fs	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			3	302	+			47			KRAB.		B7Z586|Q8NC99	Frame_Shift_Del	DEL	ENST00000343325.4	37	c.140delG	CCDS12273.1																																																																																				0.318	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		9	23	NA	NA	NA	NA	9	23	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30433493	30433494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr19:30433493_30433494insC	ENST00000542441.2	+	1	336_337	c.39_40insC	c.(40-42)cccfs	p.P14fs	URI1_ENST00000312051.6_5'UTR|URI1_ENST00000360605.4_Intron|URI1_ENST00000392271.1_5'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	14					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CCGACCCCTCGCCCCCTTCGGC	0.762																																						uc002nsr.2		NA																	0				ovary(1)|kidney(1)	2						c.(37-42)TCGCCCfs		RPB5-mediating protein isoform a																																				SO:0001589	frameshift_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30433493_30433494insC	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.44dupC	19.37:g.30433498_30433498dupC	ENSP00000442436:p.Pro14fs					C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_5'UTR	p.S13fs	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	1	69_70	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	13_14					A8K805|H7BY42|Q8TC23|Q9UNU3	Frame_Shift_Ins	INS	ENST00000542441.2	37	c.39_40insC	CCDS12420.1																																																																																				0.762	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		2	4	NA	NA	NA	NA	2	4	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33614263	33614282	+	Frame_Shift_Del	DEL	AGCTGTGTAACATCCCCGTG	AGCTGTGTAACATCCCCGTG	-	rs146752637|rs376436106|rs369478116		TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG	ENST00000404816.2	+	32	5077_5096	c.4724_4743delAGCTGTGTAACATCCCCGTG	c.(4723-4743)cagctgtgtaacatccccgtgfs	p.QLCNIPV1575fs	LTBP1_ENST00000418533.2_Frame_Shift_Del_p.QLCNIPV1207fs|LTBP1_ENST00000390003.4_Frame_Shift_Del_p.QLCNIPV1250fs|LTBP1_ENST00000404525.1_Frame_Shift_Del_p.QLCNIPV1196fs|LTBP1_ENST00000402934.1_Frame_Shift_Del_p.QLCNIPV1194fs|LTBP1_ENST00000354476.3_Frame_Shift_Del_p.QLCNIPV1576fs|LTBP1_ENST00000407925.1_Frame_Shift_Del_p.QLCNIPV1249fs|LTBP1_ENST00000272273.5_Frame_Shift_Del_p.QLCNIPV473fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1575	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GACTATGCTCAGCTGTGTAACATCCCCGTGACGGGACGCC	0.564																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4726-4746)CAGCTGTGTAACATCCCCGTGfs		latent transforming growth factor beta binding																																				SO:0001589	frameshift_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33614263_33614282delAGCTGTGTAACATCCCCGTG		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4724_4743delAGCTGTGTAACATCCCCGTG	2.37:g.33614263_33614282delAGCTGTGTAACATCCCCGTG	ENSP00000386043:p.Gln1575fs					LTBP1_uc002rot.2_Frame_Shift_Del_p.Q1250fs|LTBP1_uc002rou.2_Frame_Shift_Del_p.Q1249fs|LTBP1_uc002rov.2_Frame_Shift_Del_p.Q1196fs|LTBP1_uc010ymz.1_Frame_Shift_Del_p.Q1207fs|LTBP1_uc010yna.1_Frame_Shift_Del_p.Q1154fs|LTBP1_uc010ynb.1_Frame_Shift_Del_p.Q473fs	p.Q1576fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			32	4727_4746	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1575_1581					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Del	DEL	ENST00000404816.2	37	c.4727_4746delAGCTGTGTAACATCCCCGTG	CCDS33177.2																																																																																				0.564	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		18	112	NA	NA	NA	NA	18	112	---	---	---	---
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962290	+	Frame_Shift_Del	DEL	TTTTGCT	TTTTGCT	-			TCGA-CV-7430-01A-11D-2129-08	TCGA-CV-7430-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	29a4027f-4d4f-4133-b40a-3bfab6d2ac9e	9c201383-26e2-4f85-b60e-8142f545c2e3	g.chr4:69962284_69962290delTTTTGCT	ENST00000508661.1	+	1	73_79	c.46_52delTTTTGCT	c.(46-54)ttttgctttfs	p.FCF16fs	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Frame_Shift_Del_p.FCF16fs			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	16					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACAACTGAGCTTTTGCTTTAGCTCTGG	0.42																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(46-54)TTTTGCTTTfs		UDP glucuronosyltransferase 2B7 precursor																																				SO:0001589	frameshift_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962284_69962290delTTTTGCT	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.46_52delTTTTGCT	4.37:g.69962284_69962290delTTTTGCT	ENSP00000427659:p.Phe16fs					UGT2B7_uc010ihq.2_Frame_Shift_Del_p.F16fs	p.F16fs	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	92_98	+			16_18					B2R810|Q6GTW0	Frame_Shift_Del	DEL	ENST00000508661.1	37	c.46_52delTTTTGCT																																																																																					0.420	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		75	158	NA	NA	NA	NA	75	158	---	---	---	---
