#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
DNAJC11	55735	broad.mit.edu	37	1	6698379	6698379	+	Silent	SNP	C	C	T	rs201664213		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:6698379C>T	ENST00000377577.5	-	12	1422	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Silent_p.Q381Q|DNAJC11_ENST00000542246.1_Silent_p.Q395Q|DNAJC11_ENST00000377573.5_Silent_p.Q343Q	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	433						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTTCTTCTGCAGCACAT	0.632																																						uc001aof.2		NA																	0				ovary(1)|skin(1)	2						c.(1297-1299)CAG>CAA		DnaJ (Hsp40) homolog, subfamily C, member 11							89.0	76.0	80.0					1																	6698379		2203	4300	6503	SO:0001819	synonymous_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6698379C>T	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1299G>A	1.37:g.6698379C>T						DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.Q381Q|DNAJC11_uc010nzu.1_Silent_p.Q343Q	p.Q433Q	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	12	1405	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	433			Potential.		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	ENST00000377577.5	37	c.1299G>A	CCDS87.1																																																																																				0.632	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		23	20	0	0	0	0	23	20				
PIK3CD	5293	broad.mit.edu	37	1	9777022	9777022	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:9777022C>G	ENST00000377346.4	+	7	981	c.786C>G	c.(784-786)atC>atG	p.I262M	PIK3CD_ENST00000361110.2_Intron|PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	262	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CTCAGTACATCTGCAGCTGCC	0.662																																						uc001aqb.3		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(784-786)ATC>ATG		catalytic phosphatidylinositol 3-kinase delta							118.0	107.0	110.0					1																	9777022		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9777022C>G		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.786C>G	1.37:g.9777022C>G	ENSP00000366563:p.Ile262Met					PIK3CD_uc010oaf.1_Missense_Mutation_p.I262M|PIK3CD_uc001aqe.3_Intron	p.I262M	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	7	994	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	262					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.786C>G	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898943	0.72754	.	.	ENSG00000171608	ENST00000377346	T	0.63417	-0.04	5.28	3.36	0.38483	Phosphoinositide 3-kinase, ras-binding (2);	.	.	.	.	T	0.74635	0.3742	M	0.81497	2.545	0.80722	D	1	D;D	0.67145	0.996;0.963	D;D	0.68943	0.961;0.938	T	0.75288	-0.3370	9	0.87932	D	0	.	6.0519	0.19790	0.2672:0.5945:0.0:0.1382	.	262;262	B7ZM44;O00329	.;PK3CD_HUMAN	M	262	ENSP00000366563:I262M	ENSP00000366563:I262M	I	+	3	3	PIK3CD	9699609	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.630000	0.37081	1.206000	0.43276	0.491000	0.48974	ATC		0.662	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		25	19	0	0	0	0	25	19				
CASZ1	54897	broad.mit.edu	37	1	10707968	10707968	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:10707968C>T	ENST00000377022.3	-	16	3704	c.3387G>A	c.(3385-3387)atG>atA	p.M1129I	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.M1129I	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1129	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGATCTGAGGCATCTGGGGTA	0.667																																						uc001aro.2		NA																	0				skin(1)	1						c.(3385-3387)ATG>ATA		castor homolog 1, zinc finger isoform a							64.0	69.0	67.0					1																	10707968		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10707968C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3387G>A	1.37:g.10707968C>T	ENSP00000366221:p.Met1129Ile					CASZ1_uc001arp.1_Missense_Mutation_p.M1129I	p.M1129I	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	16	3707	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1129			Pro-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.3387G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297153	0.60086	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.65	5.65	0.86999	.	0.079450	0.85682	D	0.000000	T	0.44117	0.1278	L	0.33485	1.01	0.30707	N	0.749656	B;B	0.16603	0.001;0.018	B;B	0.14578	0.004;0.011	T	0.50491	-0.8822	9	0.72032	D	0.01	-25.6493	14.3356	0.66586	0.0:0.8521:0.1479:0.0	.	1129;1129	Q86V15-2;Q86V15	.;CASZ1_HUMAN	I	1129	.	ENSP00000339445:M1129I	M	-	3	0	CASZ1	10630555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.825000	0.48096	2.659000	0.90383	0.655000	0.94253	ATG		0.667	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		32	15	0	0	0	0	32	15				
ALPL	249	broad.mit.edu	37	1	21903031	21903031	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:21903031G>A	ENST00000374840.3	+	11	1456	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ALPL_ENST00000540617.1_Silent_p.L347L|ALPL_ENST00000539907.1_Silent_p.L325L|ALPL_ENST00000374830.1_Silent_p.L48L|ALPL_ENST00000374832.1_Silent_p.L402L|ALPL_ENST00000425315.2_Silent_p.L402L|ALPL_ENST00000374829.1_Silent_p.L48L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	402					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CCCCCATGCTGAGTGACACAG	0.607																																						uc001bet.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1204-1206)CTG>CTA		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						137.0	119.0	125.0					1																	21903031		2203	4300	6503	SO:0001819	synonymous_variant	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21903031G>A	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1206G>A	1.37:g.21903031G>A						ALPL_uc010odn.1_Silent_p.L350L|ALPL_uc010odo.1_Silent_p.L347L|ALPL_uc010odp.1_Silent_p.L325L|ALPL_uc001beu.3_Silent_p.L402L	p.L402L	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	11	1463	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	402					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.1206G>A	CCDS217.1																																																																																				0.607	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		49	65	0	0	0	0	49	65				
LDLRAD2	401944	broad.mit.edu	37	1	22148095	22148095	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:22148095G>C	ENST00000344642.2	+	4	983	c.796G>C	c.(796-798)Gct>Cct	p.A266P	LDLRAD2_ENST00000484271.1_3'UTR|LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A266P|HSPG2_ENST00000486901.1_5'Flank	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	266						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACAAGACGCAGCTTTGGAAGG	0.602																																						uc001bfg.1		NA																	0					0						c.(796-798)GCT>CCT		low density lipoprotein receptor class A domain							84.0	82.0	83.0					1																	22148095		2203	4300	6503	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22148095G>C	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.796G>C	1.37:g.22148095G>C	ENSP00000340988:p.Ala266Pro					LDLRAD2_uc001bfh.1_RNA	p.A266P	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	4	983	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	266			Cytoplasmic (Potential).		B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.796G>C	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665006	0.47572	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.54675	0.56;0.56	3.42	2.43	0.29744	.	1.106400	0.07343	N	0.881141	T	0.43366	0.1244	L	0.27053	0.805	0.09310	N	1	P	0.48911	0.917	P	0.46049	0.502	T	0.33343	-0.9872	10	0.66056	D	0.02	-0.5967	5.2558	0.15546	0.2841:0.0:0.7159:0.0	.	266	Q5SZI1	LRAD2_HUMAN	P	266	ENSP00000340988:A266P;ENSP00000444097:A266P	ENSP00000340988:A266P	A	+	1	0	LDLRAD2	22020682	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.009000	0.12765	0.932000	0.37266	-0.367000	0.07326	GCT		0.602	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		39	64	0	0	0	0	39	64				
WASF2	10163	broad.mit.edu	37	1	27755376	27755376	+	Missense_Mutation	SNP	C	C	T	rs151177492		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:27755376C>T	ENST00000430629.2	-	2	240	c.25G>A	c.(25-27)Gag>Aag	p.E9K	WASF2_ENST00000536657.1_Missense_Mutation_p.E9K	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	9					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGCCTTGGCTCGATGTTCCTC	0.488																																						uc001bof.1		NA																	0				skin(2)|ovary(1)	3						c.(25-27)GAG>AAG		WAS protein family, member 2		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	118.0	95.0	103.0		25,25	5.0	1.0	1	dbSNP_134	103	0,8600		0,0,4300	no	missense,missense	WASF2	NM_001201404.1,NM_006990.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	9/282,9/499	27755376	1,13005	2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27755376C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.25G>A	1.37:g.27755376C>T	ENSP00000396211:p.Glu9Lys					WASF2_uc010ofl.1_Missense_Mutation_p.E9K	p.E9K	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	2	241	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	9					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.25G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768258	0.69878	2.27E-4	0.0	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67345	-0.26;-0.26	5.89	4.99	0.66335	.	0.046548	0.85682	N	0.000000	T	0.77191	0.4094	M	0.80183	2.485	0.80722	D	1	D;P	0.54601	0.967;0.809	P;B	0.53006	0.715;0.086	T	0.81289	-0.1000	10	0.72032	D	0.01	-4.4357	14.6322	0.68663	0.0:0.9298:0.0:0.0702	.	9;9	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	K	9	ENSP00000396211:E9K;ENSP00000439883:E9K	ENSP00000396211:E9K	E	-	1	0	WASF2	27627963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	1.506000	0.48736	0.655000	0.94253	GAG		0.488	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		30	26	0	0	0	0	30	26				
KIAA0319L	79932	broad.mit.edu	37	1	35921704	35921704	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:35921704G>A	ENST00000325722.3	-	10	1800	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	522	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTCCCAAAGAGGGTGATGG	0.547																																						uc001byx.2		NA																	0				skin(2)	2						c.(1564-1566)CTC>CTT		dyslexia susceptibility 2-like							230.0	228.0	229.0					1																	35921704		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35921704G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1566C>T	1.37:g.35921704G>A						KIAA0319L_uc001byw.2_5'Flank|KIAA0319L_uc010ohv.1_Silent_p.L164L	p.L522L	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			10	1824	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	522			PKD 3.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.1566C>T	CCDS390.1																																																																																				0.547	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		116	172	0	0	0	0	116	172				
AGO4	192670	broad.mit.edu	37	1	36298161	36298161	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:36298161G>C	ENST00000373210.3	+	11	1614	c.1369G>C	c.(1369-1371)Gat>Cat	p.D457H		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	457					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ATGTAGGGAAGATTTACTAAA	0.393																																						uc001bzj.1		NA																	0				ovary(1)	1						c.(1369-1371)GAT>CAT		eukaryotic translation initiation factor 2C, 4							118.0	121.0	120.0					1																	36298161		2203	4300	6503	SO:0001583	missense	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36298161G>C	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1369G>C	1.37:g.36298161G>C	ENSP00000362306:p.Asp457His						p.D457H	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			11	1559	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	457					A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.1369G>C	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925816	0.52759	.	.	ENSG00000134698	ENST00000373210	T	0.05855	3.38	5.36	5.36	0.76844	.	0.369884	0.32244	N	0.006380	T	0.13798	0.0334	M	0.76838	2.35	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.02358	-1.1171	10	0.56958	D	0.05	-3.9187	19.0955	0.93249	0.0:0.0:1.0:0.0	.	457	Q9HCK5	AGO4_HUMAN	H	457	ENSP00000362306:D457H	ENSP00000362306:D457H	D	+	1	0	EIF2C4	36070748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.511000	0.84671	0.655000	0.94253	GAT		0.393	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		26	64	0	0	0	0	26	64				
MACF1	23499	broad.mit.edu	37	1	39852945	39852945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39852945G>A	ENST00000372915.3	+	57	14533	c.14446G>A	c.(14446-14448)Gat>Aat	p.D4816N	MACF1_ENST00000539005.1_Missense_Mutation_p.D2728N|MACF1_ENST00000564288.1_Missense_Mutation_p.D4811N|MACF1_ENST00000545844.1_Missense_Mutation_p.D2749N|MACF1_ENST00000567887.1_Missense_Mutation_p.D4848N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3251N|MACF1_ENST00000361689.2_Missense_Mutation_p.D2749N|MACF1_ENST00000317713.7_Missense_Mutation_p.D2749N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4816					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGTTGGATGATAAACAAAG	0.448																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9751-9753)GAT>AAT		microfilament and actin filament cross-linker							140.0	156.0	150.0					1																	39852945		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39852945G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14446G>A	1.37:g.39852945G>A	ENSP00000362006:p.Asp4816Asn					MACF1_uc010ois.1_Missense_Mutation_p.D2749N|MACF1_uc001cda.1_Missense_Mutation_p.D2636N|MACF1_uc001cdc.1_Missense_Mutation_p.D1815N	p.D3251N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		22	9882	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4816			Spectrin 4.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9751G>A		.	.	.	.	.	.	.	.	.	.	G	12.99	2.102744	0.37145	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	6.06	5.12	0.69794	.	0.182353	0.38272	N	0.001755	T	0.33352	0.0860	L	0.47716	1.5	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.15052	0.012;0.003;0.005	T	0.06643	-1.0815	10	0.35671	T	0.21	.	13.9109	0.63866	0.0764:0.0:0.9236:0.0	.	4816;2749;2693	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	N	2749;4816;2749;2749;2728;3251	ENSP00000439537:D2749N;ENSP00000362006:D4816N;ENSP00000354573:D2749N;ENSP00000313438:D2749N;ENSP00000444364:D2728N;ENSP00000289893:D3251N	ENSP00000289893:D3251N	D	+	1	0	MACF1	39625532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.004000	0.49513	1.492000	0.48499	0.655000	0.94253	GAT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		106	161	0	0	0	0	106	161				
MACF1	23499	broad.mit.edu	37	1	39907972	39907972	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:39907972G>A	ENST00000372915.3	+	75	18712	c.18625G>A	c.(18625-18627)Gag>Aag	p.E6209K	MACF1_ENST00000539005.1_Missense_Mutation_p.E4121K|MACF1_ENST00000564288.1_Missense_Mutation_p.E6310K|MACF1_ENST00000545844.1_Missense_Mutation_p.E4251K|MACF1_ENST00000567887.1_Missense_Mutation_p.E6347K|MACF1_ENST00000289893.4_Missense_Mutation_p.E4753K|MACF1_ENST00000361689.2_Missense_Mutation_p.E4251K|MACF1_ENST00000317713.7_Missense_Mutation_p.E4251K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6209					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACCTGGGTGAGAAAATTGC	0.448																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(14257-14259)GAG>AAG		microfilament and actin filament cross-linker							46.0	48.0	47.0					1																	39907972		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39907972G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18625G>A	1.37:g.39907972G>A	ENSP00000362006:p.Glu6209Lys					MACF1_uc010ois.1_Missense_Mutation_p.E4251K	p.E4753K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		41	14388	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14257G>A		.	.	.	.	.	.	.	.	.	.	G	21.8	4.209197	0.79240	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	6.03	6.03	0.97812	.	0.090504	0.47852	N	0.000217	T	0.50616	0.1626	N	0.11673	0.155	0.80722	D	1	D;D	0.71674	0.998;0.958	P;P	0.62298	0.9;0.749	T	0.54702	-0.8254	10	0.44086	T	0.13	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	6209;4251	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	K	4251;6209;4251;4251;4121;4753	ENSP00000439537:E4251K;ENSP00000362006:E6209K;ENSP00000354573:E4251K;ENSP00000313438:E4251K;ENSP00000444364:E4121K;ENSP00000289893:E4753K	ENSP00000289893:E4753K	E	+	1	0	MACF1	39680559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.062000	0.89475	2.861000	0.98227	0.655000	0.94253	GAG		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		17	36	0	0	0	0	17	36				
SZT2	23334	broad.mit.edu	37	1	43903370	43903370	+	Splice_Site	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:43903370C>T	ENST00000562955.1	+	44	6224	c.6224C>T	c.(6223-6225)tCg>tTg	p.S2075L	SZT2_ENST00000372442.1_Splice_Site_p.S1233L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2132					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGGAAGCCTCGGCATGTATC	0.592																																						uc001cjk.1		NA																	0					0						c.(3697-3699)TCG>TTG		hypothetical protein LOC23334							41.0	41.0	41.0					1																	43903370		2203	4300	6503	SO:0001630	splice_region_variant	23334					peroxisome		g.chr1:43903370C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6225+1C>T	1.37:g.43903370C>T							p.S1233L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			30	4160	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2132					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3698C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993297	0.35131	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.77	-1.67	0.08238	.	0.921590	0.09369	N	0.811537	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	9	0.27785	T	0.31	.	8.393	0.32540	0.1051:0.3427:0.0:0.5522	.	2075	Q5T011-5	.	L	1233	.	ENSP00000361519:S1233L	S	+	2	0	SZT2	43675957	0.000000	0.05858	0.837000	0.33122	0.979000	0.70002	-1.093000	0.03362	-0.341000	0.08376	-0.122000	0.15005	TCG		0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Missense_Mutation	21	27	0	0	0	0	21	27				
EFCAB14	9813	broad.mit.edu	37	1	47182007	47182007	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:47182007G>C	ENST00000371933.3	-	2	1270	c.294C>G	c.(292-294)ctC>ctG	p.L98L	EFCAB14_ENST00000544071.1_Silent_p.L98L	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	98							calcium ion binding (GO:0005509)										GATCCTCCTTGAGAGCAACCT	0.418																																						uc001cqk.3		NA																	0					0						c.(292-294)CTC>CTG		hypothetical protein LOC9813							84.0	76.0	79.0					1																	47182007		2203	4298	6501	SO:0001819	synonymous_variant	9813						calcium ion binding	g.chr1:47182007G>C	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.294C>G	1.37:g.47182007G>C						KIAA0494_uc010omh.1_Silent_p.L98L|KIAA0494_uc001cql.1_Silent_p.L98L	p.L98L	NM_014774	NP_055589	O75071	K0494_HUMAN			2	1271	-	Acute lymphoblastic leukemia(166;0.155)		98					D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	37	c.294C>G	CCDS30706.1																																																																																				0.418	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		13	31	0	0	0	0	13	31				
OSBPL9	114883	broad.mit.edu	37	1	52256649	52256649	+	IGR	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:52256649C>T	ENST00000428468.1	+	0	2893				NRD1_ENST00000539524.1_Missense_Mutation_p.D928N|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000354831.7_Missense_Mutation_p.D1060N|NRD1_ENST00000352171.7_Missense_Mutation_p.D992N|RP4-657D16.3_ENST00000588291.1_RNA			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTTCTTATCAACAACTTCA	0.398																																						uc001ctc.3		NA																	0					0						c.(3178-3180)GAT>AAT		nardilysin isoform a							72.0	75.0	74.0					1																	52256649		2203	4300	6503	SO:0001628	intergenic_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52256649C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52256649C>T						NRD1_uc009vzb.2_Missense_Mutation_p.D755N|NRD1_uc001ctd.3_Missense_Mutation_p.D992N|NRD1_uc001cte.2_Missense_Mutation_p.D928N	p.D1060N	NM_002525	NP_002516	O43847	NRDC_HUMAN			30	3500	-			991					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.3178G>A	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491368	0.64074	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.41400	1.0;1.0;1.0	5.32	4.41	0.53225	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.093875	0.64402	D	0.000001	T	0.48677	0.1513	M	0.71206	2.165	0.80722	D	1	P;P	0.45531	0.86;0.86	P;P	0.44811	0.461;0.461	T	0.57015	-0.7883	10	0.72032	D	0.01	-5.9543	14.3914	0.66981	0.0:0.9288:0.0:0.0712	.	991;1060	O43847;B1AKJ5	NRDC_HUMAN;.	N	992;1060;928;394;992	ENSP00000262679:D992N;ENSP00000346890:D1060N;ENSP00000444416:D928N	ENSP00000262679:D992N	D	-	1	0	NRD1	52029237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.364000	0.66110	1.466000	0.48025	0.655000	0.94253	GAT		0.398	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			18	23	0	0	0	0	18	23				
MAGOH	4116	broad.mit.edu	37	1	53692756	53692756	+	Silent	SNP	G	G	A	rs370758699		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:53692756G>A	ENST00000371470.3	-	5	563	c.402C>T	c.(400-402)ttC>ttT	p.F134F	RP5-1024G6.7_ENST00000569869.1_RNA|MAGOH_ENST00000371466.4_Silent_p.F97F	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	134					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CAATAAGACTGAAGACCAAAC	0.373																																					Colon(150;521 2416 7674 18129)	uc001cvf.1		NA																	0					0						c.(400-402)TTC>TTT		mago-nashi homolog							59.0	58.0	58.0					1																	53692756		2203	4300	6503	SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692756G>A	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.402C>T	1.37:g.53692756G>A						MAGOH_uc010ont.1_Silent_p.F97F	p.F134F	NM_002370	NP_002361	P61326	MGN_HUMAN			5	490	-			134	KCLVF->ECLVA: Complete loss of nonsense- mediated decay activity.				B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.402C>T	CCDS577.1																																																																																				0.373	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		6	14	0	0	0	0	6	14				
C1orf87	127795	broad.mit.edu	37	1	60538268	60538268	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:60538268C>G	ENST00000371201.3	-	2	155	c.48G>C	c.(46-48)gaG>gaC	p.E16D	C1orf87_ENST00000450089.2_Missense_Mutation_p.E16D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	16							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCACCATGATCTCAGGCATTG	0.393																																					NSCLC(75;811 1386 4923 13371 51772)	uc001czs.1		NA																	0				ovary(1)|breast(1)	2						c.(46-48)GAG>GAC		hypothetical protein LOC127795							130.0	123.0	126.0					1																	60538268		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60538268C>G	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.48G>C	1.37:g.60538268C>G	ENSP00000360244:p.Glu16Asp						p.E16D	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN			2	140	-			16					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.48G>C	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803203	0.50315	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.36520	1.25	5.64	1.64	0.23874	.	0.207181	0.34025	N	0.004328	T	0.28532	0.0706	L	0.55481	1.735	0.80722	D	1	B	0.33448	0.412	B	0.34931	0.192	T	0.03706	-1.1011	10	0.40728	T	0.16	-13.4046	4.4099	0.11427	0.1561:0.5996:0.0:0.2443	.	16	Q8N0U7	CA087_HUMAN	D	16	ENSP00000360244:E16D	ENSP00000360244:E16D	E	-	3	2	C1orf87	60310856	0.706000	0.27856	0.570000	0.28473	0.993000	0.82548	0.151000	0.16283	0.153000	0.19213	0.650000	0.86243	GAG		0.393	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		31	67	0	0	0	0	31	67				
LEPR	3953	broad.mit.edu	37	1	66058502	66058502	+	Silent	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:66058502A>C	ENST00000349533.6	+	6	842	c.657A>C	c.(655-657)ggA>ggC	p.G219G	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371060.3_Silent_p.G219G|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Silent_p.G219G|LEPR_ENST00000344610.8_Silent_p.G219G|LEPR_ENST00000371058.1_Silent_p.G219G	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATCTGGTGGAGTAATTTTCC	0.378																																						uc001dci.2		NA																	0				skin(1)	1						c.(655-657)GGA>GGC		leptin receptor isoform 1							106.0	102.0	103.0					1																	66058502		2203	4300	6503	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66058502A>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.657A>C	1.37:g.66058502A>C						LEPR_uc001dcg.2_Silent_p.G219G|LEPR_uc001dch.2_Silent_p.G219G|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.G219G|LEPR_uc001dck.2_Silent_p.G219G	p.G219G	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	6	859	+			219			Extracellular (Potential).		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.657A>C	CCDS631.1																																																																																				0.378	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		13	31	0	0	0	0	13	31				
USP33	23032	broad.mit.edu	37	1	78204976	78204976	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:78204976G>C	ENST00000370793.1	-	6	764	c.418C>G	c.(418-420)Cac>Gac	p.H140D	USP33_ENST00000370792.3_Missense_Mutation_p.H140D|USP33_ENST00000357428.1_Missense_Mutation_p.H140D|USP33_ENST00000528150.1_5'Flank|USP33_ENST00000370794.3_Missense_Mutation_p.H109D	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	140					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTATTTGGTGAGGTTGTCTT	0.373																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(418-420)CAC>GAC		ubiquitin specific protease 33 isoform 1							249.0	247.0	248.0					1																	78204976		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78204976G>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.418C>G	1.37:g.78204976G>C	ENSP00000359829:p.His140Asp					USP33_uc001dhu.2_Missense_Mutation_p.H109D|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.H140D	p.H140D	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			6	765	-			140					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.418C>G	CCDS678.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.451007	0.26074	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.29397	2.96;2.96;2.96;2.97;1.57	5.32	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);	0.536831	0.22014	N	0.065823	T	0.09379	0.0231	L	0.29908	0.895	0.29504	N	0.85471	B;B	0.11235	0.0;0.004	B;B	0.17098	0.001;0.017	T	0.11348	-1.0591	10	0.12430	T	0.62	.	13.3194	0.60424	0.078:0.0:0.922:0.0	.	140;140	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	D	109;140;140;140;140	ENSP00000359830:H109D;ENSP00000359829:H140D;ENSP00000350009:H140D;ENSP00000359828:H140D;ENSP00000434441:H140D	ENSP00000350009:H140D	H	-	1	0	USP33	77977564	1.000000	0.71417	0.907000	0.35723	0.960000	0.62799	6.650000	0.74368	2.665000	0.90641	0.650000	0.86243	CAC		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		45	91	0	0	0	0	45	91				
COL24A1	255631	broad.mit.edu	37	1	86252129	86252129	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:86252129G>T	ENST00000370571.2	-	48	4333	c.3967C>A	c.(3967-3969)Cca>Aca	p.P1323T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1323T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1323	Collagen-like 15.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTCTTCCTGGGCCGCCTCTG	0.463																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3967-3969)CCA>ACA		collagen, type XXIV, alpha 1 precursor							70.0	71.0	71.0					1																	86252129		1816	4078	5894	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86252129G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3967C>A	1.37:g.86252129G>T	ENSP00000359603:p.Pro1323Thr					COL24A1_uc001dli.2_Missense_Mutation_p.P459T|COL24A1_uc010osd.1_Missense_Mutation_p.P623T|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.P1323T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	48	4009	-			1323			Collagen-like 15.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3967C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	8.924	0.961815	0.18583	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98666	-5.06;-5.06	5.25	4.26	0.50523	.	0.000000	0.35040	N	0.003498	D	0.95551	0.8554	M	0.69823	2.125	0.32171	N	0.581628	B;B	0.22909	0.003;0.077	B;B	0.29077	0.004;0.098	D	0.91949	0.5569	10	0.29301	T	0.29	.	6.3826	0.21544	0.0803:0.1115:0.6511:0.1571	.	1323;1323	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	T	1323	ENSP00000359603:P1323T;ENSP00000392531:P1323T	ENSP00000359603:P1323T	P	-	1	0	COL24A1	86024717	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.552000	0.36244	2.447000	0.82792	0.460000	0.39030	CCA		0.463	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		47	67	1	0	6.08e-21	6.73e-21	47	67				
GBP2	2634	broad.mit.edu	37	1	89579735	89579735	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:89579735G>C	ENST00000370466.3	-	7	1381	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	371					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACATCCTTGAAAGAGTTCT	0.488																																						uc001dmz.1		NA																	0				ovary(1)	1						c.(1111-1113)TTC>TTG		guanylate binding protein 2,							129.0	129.0	129.0					1																	89579735		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89579735G>C	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1113C>G	1.37:g.89579735G>C	ENSP00000359497:p.Phe371Leu					GBP2_uc001dmy.1_RNA	p.F371L	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	7	1384	-		Lung NSC(277;0.0908)	371					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.1113C>G	CCDS719.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823652	0.50739	.	.	ENSG00000162645	ENST00000370466	T	0.62232	0.04	3.85	1.94	0.25998	Guanylate-binding protein, C-terminal (3);	0.081933	0.48286	U	0.000186	T	0.75421	0.3847	H	0.95539	3.685	0.29611	N	0.84693	D	0.89917	1.0	D	0.97110	1.0	T	0.70182	-0.4942	10	0.87932	D	0	-17.0456	7.8688	0.29554	0.2097:0.0:0.7903:0.0	.	371	P32456	GBP2_HUMAN	L	371	ENSP00000359497:F371L	ENSP00000359497:F371L	F	-	3	2	GBP2	89352323	1.000000	0.71417	0.920000	0.36463	0.475000	0.33008	1.195000	0.32186	0.386000	0.24997	0.557000	0.71058	TTC		0.488	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		54	79	0	0	0	0	54	79				
LRRC8C	84230	broad.mit.edu	37	1	90179681	90179681	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:90179681G>C	ENST00000370454.4	+	3	1807	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	518					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATCTGGAAGAGCTGTACCT	0.468																																						uc001dnl.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1552-1554)GAG>CAG		leucine rich repeat containing 8 family, member							76.0	75.0	75.0					1																	90179681		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179681G>C		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1552G>C	1.37:g.90179681G>C	ENSP00000359483:p.Glu518Gln						p.E518Q	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1794	+		all_lung(203;0.126)	518			LRR 6.		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.1552G>C	CCDS725.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214482	0.58452	.	.	ENSG00000171488	ENST00000370454	T	0.26223	1.75	5.69	4.77	0.60923	.	0.092067	0.64402	D	0.000001	T	0.41190	0.1148	M	0.70595	2.14	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.41070	-0.9529	10	0.51188	T	0.08	.	16.0243	0.80532	0.0:0.0:0.8645:0.1354	.	518	Q8TDW0	LRC8C_HUMAN	Q	518	ENSP00000359483:E518Q	ENSP00000359483:E518Q	E	+	1	0	LRRC8C	89952269	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	1.371000	0.46172	0.650000	0.86243	GAG		0.468	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		22	37	0	0	0	0	22	37				
CCDC18	343099	broad.mit.edu	37	1	93649049	93649049	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:93649049C>G	ENST00000343253.7	+	2	633	c.131C>G	c.(130-132)tCc>tGc	p.S44C	CCDC18_ENST00000401026.3_Missense_Mutation_p.S44C|CCDC18_ENST00000557479.1_Missense_Mutation_p.S162C|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000370282.3_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	44										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAAGAGTTATCCAGGTAAGTA	0.343																																						uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(484-486)TCC>TGC		sarcoma antigen NY-SAR-41							88.0	84.0	85.0					1																	93649049		1842	4089	5931	SO:0001583	missense	343099							g.chr1:93649049C>G			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.131C>G	1.37:g.93649049C>G	ENSP00000343377:p.Ser44Cys					TMED5_uc001dpn.2_5'Flank|TMED5_uc001dpo.2_5'Flank|TMED5_uc001dpp.2_5'Flank	p.S162C	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	2	653	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	44					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.485C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.79|15.79|15.79	2.936386|2.936386|2.936386	0.52972|0.52972|0.52972	.|.|.	.|.|.	ENSG00000122483|ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.|.	.|.|.	.|.|.	5.29|5.29|5.29	3.34|3.34|3.34	0.38264|0.38264|0.38264	.|.|.	.|.|0.172475	.|.|0.41001	.|.|N	.|.|0.000972	T|T|T	0.51618|0.51618|0.51618	0.1685|0.1685|0.1685	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.61697	.|.|0.99	.|.|P	.|.|0.56474	.|.|0.799	T|T|T	0.57642|0.57642|0.57642	-0.7776|-0.7776|-0.7776	5|5|9	.|.|0.66056	.|.|D	.|.|0.02	.|.|.	6.8707|6.8707|6.8707	0.24119|0.24119|0.24119	0.3125:0.605:0.0:0.0825|0.3125:0.605:0.0:0.0825|0.3125:0.605:0.0:0.0825	.|.|.	.|.|162	.|.|G3V388	.|.|.	M|A|C	90|98|44;44;162	.|.|.	.|.|ENSP00000343377:S44C	I|P|S	+|+|+	3|1|2	3|0|0	CCDC18|CCDC18|CCDC18	93421637|93421637|93421637	0.964000|0.964000|0.964000	0.33143|0.33143|0.33143	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.833000|0.833000|0.833000	0.47200|0.47200|0.47200	0.551000|0.551000|0.551000	0.23361|0.23361|0.23361	1.296000|1.296000|1.296000	0.44742|0.44742|0.44742	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	ATC|CCA|TCC		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		23	28	0	0	0	0	23	28				
S1PR1	1901	broad.mit.edu	37	1	101704696	101704696	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:101704696C>T	ENST00000305352.6	+	2	531	c.156C>T	c.(154-156)ttC>ttT	p.F52F	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.F52L(1)|p.F52>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGGTGGTGTTCATTCTCATCT	0.438											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2		NA																	2	Substitution - Missense(1)|Complex(1)		urinary_tract(2)	ovary(2)|lung(1)	3						c.(154-156)TTC>TTT		sphingosine-1-phosphate receptor 1							147.0	141.0	143.0					1																	101704696		2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704696C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.156C>T	1.37:g.101704696C>T			OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Silent_p.F52F	p.F52F	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	670	+			52			Helical; Name=1; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.156C>T	CCDS777.1																																																																																				0.438	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		43	85	0	0	0	0	43	85				
EPS8L3	79574	broad.mit.edu	37	1	110294644	110294644	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:110294644C>T	ENST00000361965.4	-	15	1513	c.1407G>A	c.(1405-1407)ctG>ctA	p.L469L	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Silent_p.L470L|EPS8L3_ENST00000361852.4_Silent_p.L439L	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	469	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGACCACAGTCAGTTCCCGTG	0.592																																						uc001dyr.1		NA																	0				ovary(2)|skin(1)	3						c.(1405-1407)CTG>CTA		epidermal growth factor receptor pathway							97.0	97.0	97.0					1																	110294644		2203	4300	6503	SO:0001819	synonymous_variant	79574					cytoplasm	protein binding	g.chr1:110294644C>T	AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.1407G>A	1.37:g.110294644C>T						EPS8L3_uc001dys.1_Silent_p.L439L|EPS8L3_uc001dyq.1_Silent_p.L470L|EPS8L3_uc009wfm.1_Silent_p.L406L|EPS8L3_uc009wfn.1_Silent_p.L414L	p.L469L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)	15	1552	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	469			SH3.		A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	c.1407G>A	CCDS814.1																																																																																				0.592	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		42	93	0	0	0	0	42	93				
KCNA2	3737	broad.mit.edu	37	1	111146834	111146834	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:111146834C>T	ENST00000485317.1	-	3	1244	c.571G>A	c.(571-573)Gag>Aag	p.E191K	KCNA2_ENST00000316361.4_Missense_Mutation_p.E191K|KCNA2_ENST00000369770.3_Missense_Mutation_p.E191K|KCNA2_ENST00000440270.1_Missense_Mutation_p.E191K|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	191					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TCTTCATTCTCATCCCGGAAG	0.493																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	0				ovary(1)	1						c.(571-573)GAG>AAG		potassium voltage-gated channel, shaker-related							128.0	125.0	126.0					1																	111146834		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146834C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.571G>A	1.37:g.111146834C>T	ENSP00000433109:p.Glu191Lys					KCNA2_uc009wfv.1_Missense_Mutation_p.E191K|KCNA2_uc009wfw.2_Missense_Mutation_p.E191K	p.E191K	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1067	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	191					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.571G>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200919	0.38905	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000058	T	0.51702	0.1690	L	0.55213	1.73	0.80722	D	1	B;B	0.15141	0.012;0.001	B;B	0.17722	0.019;0.001	T	0.50406	-0.8832	10	0.18710	T	0.47	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	191;191	Q86XG6;P16389	.;KCNA2_HUMAN	K	191	ENSP00000358785:E191K;ENSP00000433109:E191K;ENSP00000415257:E191K;ENSP00000314520:E191K	ENSP00000314520:E191K	E	-	1	0	KCNA2	110948357	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.489000	0.66875	2.785000	0.95823	0.655000	0.94253	GAG		0.493	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		31	54	0	0	0	0	31	54				
DDX20	11218	broad.mit.edu	37	1	112309284	112309284	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:112309284G>A	ENST00000369702.4	+	11	2858	c.2238G>A	c.(2236-2238)ttG>ttA	p.L746L	DDX20_ENST00000475700.1_Silent_p.L354L	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	746					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCAGATTGCAGACTGAAG	0.473																																						uc001ebs.2		NA																	0				lung(1)|kidney(1)	2						c.(2236-2238)TTG>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							85.0	84.0	84.0					1																	112309284		2203	4300	6503	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112309284G>A	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2238G>A	1.37:g.112309284G>A						DDX20_uc010owf.1_Silent_p.L508L|DDX20_uc001ebt.2_Silent_p.L354L	p.L746L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2595	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	746					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.2238G>A	CCDS842.1																																																																																				0.473	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		21	46	0	0	0	0	21	46				
MAGI3	260425	broad.mit.edu	37	1	114226508	114226508	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:114226508G>C	ENST00000307546.9	+	21	4393	c.4318G>C	c.(4318-4320)Gag>Cag	p.E1440Q	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1465					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAAACAAAGAGACTGGAAG	0.433																																						uc001edk.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(4318-4320)GAG>CAG		membrane-associated guanylate kinase-related  3							72.0	70.0	70.0					1																	114226508		1568	3581	5149	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226508G>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.4318G>C	1.37:g.114226508G>C	ENSP00000304604:p.Glu1440Gln					MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	p.E1440Q	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4499	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1465					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.4318G>C	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751655	0.49362	.	.	ENSG00000081026	ENST00000307546	T	0.16324	2.35	5.13	5.13	0.70059	.	0.422419	0.22104	N	0.064576	T	0.08670	0.0215	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.38616	0.277	T	0.10543	-1.0625	10	0.72032	D	0.01	-4.6459	18.1778	0.89767	0.0:0.0:1.0:0.0	.	1440	Q5TCQ9-4	.	Q	1440	ENSP00000304604:E1440Q	ENSP00000304604:E1440Q	E	+	1	0	MAGI3	114028031	0.997000	0.39634	0.055000	0.19348	0.002000	0.02628	5.008000	0.63991	2.374000	0.81015	0.655000	0.94253	GAG		0.433	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	14	0	0	0	0	4	14				
PEX11B	8799	broad.mit.edu	37	1	145522727	145522727	+	Silent	SNP	C	C	A	rs587729353		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:145522727C>A	ENST00000369306.3	+	4	737	c.588C>A	c.(586-588)ctC>ctA	p.L196L	ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank|PEX11B_ENST00000537888.1_Silent_p.L182L	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	196					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTCCTGCTCCTGGCTCGAG	0.577																																						uc001eny.1		NA																	0					0						c.(586-588)CTC>CTA		peroxisomal biogenesis factor 11 beta							113.0	104.0	107.0					1																	145522727		2203	4300	6503	SO:0001819	synonymous_variant	8799				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding	g.chr1:145522727C>A	AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.588C>A	1.37:g.145522727C>A						NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Silent_p.L182L|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	p.L196L	NM_003846	NP_003837	O96011	PX11B_HUMAN			4	606	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		196					B3KN85|B4DXH9|Q96ET2	Silent	SNP	ENST00000369306.3	37	c.588C>A	CCDS917.1																																																																																				0.577	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846		34	192	1	0	2.27e-22	2.51e-22	34	192				
BCL9	607	broad.mit.edu	37	1	147090735	147090735	+	Silent	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:147090735A>C	ENST00000234739.3	+	8	1514	c.774A>C	c.(772-774)ccA>ccC	p.P258P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	258	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCCAACTCCACCCATTCCGG	0.592			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(772-774)CCA>CCC		B-cell CLL/lymphoma 9							69.0	71.0	70.0					1																	147090735		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090735A>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.774A>C	1.37:g.147090735A>C						BCL9_uc010ozr.1_Silent_p.P184P	p.P258P	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	1514	+	all_hematologic(923;0.115)		258			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.774A>C	CCDS30833.1																																																																																				0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		11	146	0	0	0	0	11	146				
GJA8	2703	broad.mit.edu	37	1	147381142	147381142	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:147381142G>A	ENST00000369235.1	+	1	1060	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	GJA8_ENST00000240986.4_Missense_Mutation_p.E354K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	354					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGAGGAAGCAGAGAGGCTGAC	0.632																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1060-1062)GAG>AAG		connexin 50							44.0	43.0	43.0					1																	147381142		2200	4296	6496	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147381142G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1060G>A	1.37:g.147381142G>A	ENSP00000358238:p.Glu354Lys						p.E354K	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	1123	+	all_hematologic(923;0.0276)		354			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.1060G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	11.24	1.580089	0.28180	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97731	-4.51;-4.51	5.09	5.09	0.68999	.	1.981530	0.02327	N	0.073598	D	0.93370	0.7886	L	0.50333	1.59	0.09310	N	1	B	0.28128	0.201	B	0.16722	0.016	T	0.83186	-0.0086	10	0.18276	T	0.48	.	13.8438	0.63455	0.0:0.0:1.0:0.0	.	354	P48165	CXA8_HUMAN	K	354	ENSP00000240986:E354K;ENSP00000358238:E354K	ENSP00000240986:E354K	E	+	1	0	GJA8	145847766	0.991000	0.36638	0.053000	0.19242	0.009000	0.06853	3.449000	0.52950	2.628000	0.89032	0.655000	0.94253	GAG		0.632	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	20	0	0	0	0	5	20				
FCGR1A	2209	broad.mit.edu	37	1	149762936	149762936	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149762936G>C	ENST00000369168.4	+	6	1042	c.988G>C	c.(988-990)Gat>Cat	p.D330H	RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	330	Interaction with EPB41L2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATCTCTTTGGATTCTGGTCA	0.383																																						uc001esp.3		NA																	0				ovary(1)	1						c.(988-990)GAT>CAT		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						61.0	71.0	67.0					1																	149762936		2108	4250	6358	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149762936G>C	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.988G>C	1.37:g.149762936G>C	ENSP00000358165:p.Asp330His					HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	p.D330H	NM_000566	NP_000557	P12314	FCGR1_HUMAN			6	1038	+	Breast(34;0.0124)|all_hematologic(923;0.127)		330			Cytoplasmic (Potential).|Interaction with EPB41L2.		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.988G>C	CCDS933.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637462	0.29157	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.03496	4.12;3.91	4.0	-0.337	0.12654	.	29.559000	0.00166	N	0.000000	T	0.01189	0.0039	L	0.38175	1.15	0.09310	N	1	P	0.41265	0.744	B	0.39805	0.31	T	0.39121	-0.9629	10	0.33141	T	0.24	.	3.0485	0.06161	0.2215:0.0:0.3643:0.4141	.	330	P12314	FCGR1_HUMAN	H	238;330	ENSP00000394279:D238H;ENSP00000358165:D330H	ENSP00000358165:D330H	D	+	1	0	FCGR1A	148029560	0.005000	0.15991	0.013000	0.15412	0.491000	0.33493	0.340000	0.19892	0.062000	0.16340	0.543000	0.68304	GAT		0.383	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1	NM_000566		28	142	0	0	0	0	28	142				
HIST2H2AC	8338	broad.mit.edu	37	1	149858839	149858839	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149858839G>T	ENST00000331380.2	+	1	315	c.315G>T	c.(313-315)caG>caT	p.Q105H	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	105						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q105H(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCATCGCCCAGGGCGGCGTTT	0.522																																						uc001etd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(313-315)CAG>CAT		histone cluster 2, H2ac							84.0	83.0	83.0					1																	149858839		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858839G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.315G>T	1.37:g.149858839G>T	ENSP00000332194:p.Gln105His					HIST2H2BE_uc001etc.2_5'Flank	p.Q105H	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	315	+	Breast(34;0.0124)|all_hematologic(923;0.127)		105					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.315G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690023	0.29962	.	.	ENSG00000184260	ENST00000331380	T	0.43688	0.94	5.63	3.73	0.42828	Histone-fold (2);Histone H2A (2);	0.000000	0.42172	D	0.000743	T	0.48822	0.1521	M	0.75150	2.29	0.44036	D	0.996763	D	0.71674	0.998	D	0.65684	0.937	T	0.53913	-0.8371	10	0.62326	D	0.03	.	10.0002	0.41924	0.0727:0.0:0.7898:0.1375	.	105	Q16777	H2A2C_HUMAN	H	105	ENSP00000332194:Q105H	ENSP00000332194:Q105H	Q	+	3	2	HIST2H2AC	148125463	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	1.653000	0.37323	0.732000	0.32470	-0.187000	0.12897	CAG		0.522	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		41	163	1	0	1.69e-10	1.81e-10	41	163				
SV2A	9900	broad.mit.edu	37	1	149878401	149878401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:149878401G>C	ENST00000369146.3	-	11	2176	c.1686C>G	c.(1684-1686)ttC>ttG	p.F562L	SV2A_ENST00000369145.1_Missense_Mutation_p.F562L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	562					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACTTGTACTCGAACAGGTCTG	0.537																																						uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(1684-1686)TTC>TTG		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						76.0	65.0	69.0					1																	149878401		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149878401G>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1686C>G	1.37:g.149878401G>C	ENSP00000358142:p.Phe562Leu					SV2A_uc009wlk.2_Missense_Mutation_p.F14L|SV2A_uc001eth.2_Missense_Mutation_p.F562L	p.F562L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		11	2177	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		562			Extracellular (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.1686C>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202088	0.22121	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.41065	1.01;1.01	4.94	2.6	0.31112	Major facilitator superfamily domain (1);	0.306612	0.30051	N	0.010539	T	0.19525	0.0469	M	0.62723	1.935	0.50467	D	0.999875	P;P	0.39759	0.504;0.687	B;B	0.41374	0.122;0.355	T	0.08953	-1.0697	10	0.13853	T	0.58	-11.8887	6.6141	0.22766	0.723:0.0:0.277:0.0	.	14;562	B4E000;Q7L0J3	.;SV2A_HUMAN	L	562	ENSP00000358142:F562L;ENSP00000358141:F562L	ENSP00000358141:F562L	F	-	3	2	SV2A	148145025	0.974000	0.33945	1.000000	0.80357	0.773000	0.43773	0.162000	0.16501	0.374000	0.24650	-0.604000	0.04097	TTC		0.537	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			16	46	0	0	0	0	16	46				
SNX27	81609	broad.mit.edu	37	1	151630748	151630748	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:151630748C>G	ENST00000458013.2	+	3	701	c.581C>G	c.(580-582)tCt>tGt	p.S194C	SNX27_ENST00000368843.3_Missense_Mutation_p.S194C|SNX27_ENST00000368838.1_Missense_Mutation_p.S101C			Q96L92	SNX27_HUMAN	sorting nexin family member 27	194	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCTGTGTTCTAAGCGGTAC	0.408																																					Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(580-582)TCT>TGT		sorting nexin family member 27							156.0	156.0	156.0					1																	151630748		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151630748C>G	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.581C>G	1.37:g.151630748C>G	ENSP00000400333:p.Ser194Cys					SNX27_uc001eyo.2_Missense_Mutation_p.S101C|SNX27_uc001eyp.2_Missense_Mutation_p.S8C	p.S194C	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	597	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		194			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.581C>G		.	.	.	.	.	.	.	.	.	.	C	27.6	4.843890	0.91197	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.40756	1.02;1.02;1.02	5.54	5.54	0.83059	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.75615	2.305	0.80722	D	1	D;D	0.59767	0.986;0.982	D;P	0.63033	0.91;0.793	T	0.54063	-0.8349	10	0.41790	T	0.15	.	18.0602	0.89374	0.0:1.0:0.0:0.0	.	194;194	Q96L92;Q96L92-3	SNX27_HUMAN;.	C	194;194;101	ENSP00000400333:S194C;ENSP00000357836:S194C;ENSP00000357831:S101C	ENSP00000357831:S101C	S	+	2	0	SNX27	149897372	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.618000	0.88619	0.650000	0.86243	TCT		0.408	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		61	252	0	0	0	0	61	252				
FLG	2312	broad.mit.edu	37	1	152282183	152282183	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152282183C>T	ENST00000368799.1	-	3	5214	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1727	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTCTTCTGAGTGTCCC	0.597									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5179-5181)GAA>AAA		filaggrin							222.0	222.0	222.0					1																	152282183		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282183C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5179G>A	1.37:g.152282183C>T	ENSP00000357789:p.Glu1727Lys						p.E1727K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5215	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1727			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5179G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.024	0.985704	0.18889	.	.	ENSG00000143631	ENST00000368799	T	0.00856	5.61	3.28	1.3	0.21679	.	.	.	.	.	T	0.01061	0.0035	M	0.79123	2.44	0.09310	N	1	P	0.52842	0.956	D	0.65010	0.931	T	0.45308	-0.9270	9	0.13108	T	0.6	.	4.5128	0.11919	0.0:0.6362:0.2307:0.1331	.	1727	P20930	FILA_HUMAN	K	1727	ENSP00000357789:E1727K	ENSP00000357789:E1727K	E	-	1	0	FLG	150548807	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.109000	0.10840	0.205000	0.20568	0.461000	0.40582	GAA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		151	465	0	0	0	0	151	465				
LCE2C	353140	broad.mit.edu	37	1	152648745	152648745	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:152648745G>T	ENST00000368783.1	+	2	309	c.254G>T	c.(253-255)cGg>cTg	p.R85L	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	85	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGGCGCCGGCACCAGAGC	0.677																																						uc001fah.2		NA																	0					0						c.(253-255)CGG>CTG		late cornified envelope 2C							33.0	42.0	39.0					1																	152648745		2199	4295	6494	SO:0001583	missense	353140				keratinization			g.chr1:152648745G>T		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.254G>T	1.37:g.152648745G>T	ENSP00000357772:p.Arg85Leu						p.R85L	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	309	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		85			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.254G>T	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761524	0.31228	.	.	ENSG00000187180	ENST00000368783	T	0.04406	3.63	3.15	0.636	0.17729	.	.	.	.	.	T	0.03178	0.0093	M	0.76838	2.35	0.09310	N	1	P	0.41748	0.761	B	0.43360	0.417	T	0.31696	-0.9934	9	0.66056	D	0.02	.	4.7419	0.13017	0.4315:0.0:0.5685:0.0	.	85	Q5TA81	LCE2C_HUMAN	L	85	ENSP00000357772:R85L	ENSP00000357772:R85L	R	+	2	0	LCE2C	150915369	0.000000	0.05858	0.000000	0.03702	0.787000	0.44495	0.064000	0.14437	0.017000	0.15025	0.563000	0.77884	CGG		0.677	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		5	112	1	0	0.00116845	0.00120075	5	112				
CRTC2	200186	broad.mit.edu	37	1	153925047	153925047	+	Splice_Site	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:153925047C>G	ENST00000368633.1	-	8	829	c.702G>C	c.(700-702)aaG>aaC	p.K234N	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	234					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCCTCCTACCTTCTTAGCAT	0.522																																						uc010ped.1		NA																	0				ovary(2)	2						c.(700-702)AAG>AAC		CREB regulated transcription coactivator 2							299.0	296.0	297.0					1																	153925047		2203	4299	6502	SO:0001630	splice_region_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153925047C>G	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.702+1G>C	1.37:g.153925047C>G						CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_5'UTR	p.K234N	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	772	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		234					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.702G>C	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197465	0.79015	.	.	ENSG00000160741	ENST00000368633	T	0.54479	0.57	4.56	4.56	0.56223	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	L	0.56280	1.765	0.45554	D	0.998506	D	0.89917	1.0	D	0.87578	0.998	T	0.58255	-0.7668	9	.	.	.	-15.7902	15.1957	0.73084	0.0:1.0:0.0:0.0	.	234	Q53ET0	CRTC2_HUMAN	N	234	ENSP00000357622:K234N	.	K	-	3	2	CRTC2	152191671	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.942000	0.70203	2.533000	0.85409	0.455000	0.32223	AAG		0.522	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	Missense_Mutation	9	521	0	0	0	0	9	521				
SSR2	6746	broad.mit.edu	37	1	155984754	155984754	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:155984754C>A	ENST00000295702.4	-	4	432	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	SSR2_ENST00000496742.1_Intron|SSR2_ENST00000529008.1_Intron|SSR2_ENST00000480567.1_Missense_Mutation_p.V121L	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	121					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAACTCACCACAACGGGCCCA	0.517																																						uc001fmx.2		NA																	0					0						c.(361-363)GTG>TTG		signal sequence receptor, beta precursor							75.0	68.0	70.0					1																	155984754		2203	4300	6503	SO:0001583	missense	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155984754C>A	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.361G>T	1.37:g.155984754C>A	ENSP00000295702:p.Val121Leu					SSR2_uc001fmv.2_5'Flank|SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Intron|SSR2_uc010pgw.1_Missense_Mutation_p.V140L	p.V121L	NM_003145	NP_003136	P43308	SSRB_HUMAN			4	441	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		121			Lumenal (Potential).		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Missense_Mutation	SNP	ENST00000295702.4	37	c.361G>T	CCDS1126.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471911	0.43942	.	.	ENSG00000163479	ENST00000295702;ENST00000480567;ENST00000531917	.	.	.	4.94	4.03	0.46877	.	0.063724	0.64402	D	0.000008	T	0.41259	0.1151	L	0.49350	1.555	0.58432	D	0.999999	D;B	0.57899	0.981;0.202	P;B	0.50570	0.644;0.183	T	0.33777	-0.9855	9	0.40728	T	0.16	-15.2911	11.0515	0.47893	0.0:0.9099:0.0:0.0901	.	142;121	Q6MZE4;P43308	.;SSRB_HUMAN	L	121	.	ENSP00000295702:V121L	V	-	1	0	SSR2	154251378	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.113000	0.77095	1.319000	0.45190	0.313000	0.20887	GTG		0.517	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		8	39	1	0	1.07e-07	1.13e-07	8	39				
COPA	1314	broad.mit.edu	37	1	160309718	160309718	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:160309718C>G	ENST00000241704.7	-	3	438	c.209G>C	c.(208-210)gGa>gCa	p.G70A	COPA_ENST00000368069.3_Missense_Mutation_p.G70A	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	70					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGTCATCTCCTCCAGAGAC	0.458																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(208-210)GGA>GCA		coatomer protein complex, subunit alpha isoform							123.0	126.0	125.0					1																	160309718		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160309718C>G	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.209G>C	1.37:g.160309718C>G	ENSP00000241704:p.Gly70Ala					COPA_uc001fvv.3_Missense_Mutation_p.G70A|COPA_uc009wtj.1_Intron	p.G70A	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	603	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		70			WD 2.		Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.209G>C	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176559	0.94846	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62788	-0.0;-0.0	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	L	0.42632	1.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72200	-0.4362	10	0.87932	D	0	-11.4275	18.3238	0.90246	0.0:1.0:0.0:0.0	.	70;70	P53621;P53621-2	COPA_HUMAN;.	A	70	ENSP00000357048:G70A;ENSP00000241704:G70A	ENSP00000241704:G70A	G	-	2	0	COPA	158576342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.281000	0.78621	2.666000	0.90696	0.655000	0.94253	GGA		0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		63	219	0	0	0	0	63	219				
NDUFS2	4720	broad.mit.edu	37	1	161172237	161172237	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:161172237G>C	ENST00000367993.3	+	2	510	c.62G>C	c.(61-63)gGg>gCg	p.G21A	NDUFS2_ENST00000476409.2_5'UTR|NDUFS2_ENST00000392179.4_Missense_Mutation_p.G21A	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	21					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CTGCGGCCTGGGGCTGGAGTC	0.652																																						uc001fyv.2		NA																	0				skin(1)	1						c.(61-63)GGG>GCG		NADH dehydrogenase (ubiquinone) Fe-S protein 2	NADH(DB00157)						19.0	21.0	20.0					1																	161172237		2202	4299	6501	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161172237G>C	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.62G>C	1.37:g.161172237G>C	ENSP00000356972:p.Gly21Ala					NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.G21A|NDUFS2_uc010pkj.1_5'UTR|NDUFS2_uc001fyx.2_Missense_Mutation_p.G21A|NDUFS2_uc001fyy.1_5'Flank	p.G21A	NM_004550	NP_004541	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	510	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		21					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.62G>C	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	9.396	1.076642	0.20227	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.84370	-1.84;-1.84	5.18	3.23	0.37069	.	0.267132	0.36555	N	0.002540	T	0.42245	0.1194	N	0.08118	0	0.29937	N	0.821395	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24225	-1.0166	10	0.02654	T	1	.	9.4016	0.38435	0.0:0.1573:0.6793:0.1634	.	21;21	Q53HG2;O75306	.;NDUS2_HUMAN	A	21	ENSP00000356972:G21A;ENSP00000376018:G21A	ENSP00000356972:G21A	G	+	2	0	NDUFS2	159438861	0.871000	0.30034	0.029000	0.17559	0.273000	0.26683	-0.102000	0.10956	0.689000	0.31550	0.655000	0.94253	GGG		0.652	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		3	31	0	0	0	0	3	31				
DDR2	4921	broad.mit.edu	37	1	162745470	162745470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:162745470A>G	ENST00000367922.3	+	16	2323	c.1885A>G	c.(1885-1887)Atg>Gtg	p.M629V	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.M629V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GATAAAGATCATGTCTCGGCT	0.413																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(1885-1887)ATG>GTG		discoidin domain receptor family, member 2							135.0	128.0	131.0					1																	162745470		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745470A>G	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1885A>G	1.37:g.162745470A>G	ENSP00000356899:p.Met629Val					DDR2_uc001gcg.2_Missense_Mutation_p.M629V	p.M629V	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		16	2350	+	all_hematologic(112;0.115)		629			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.1885A>G	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600637	0.66332	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.86030	-2.06;-2.06	5.11	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84215	0.5423	M	0.64997	1.995	0.37380	D	0.911993	P	0.47106	0.89	P	0.50754	0.649	D	0.87491	0.2427	9	0.87932	D	0	.	14.0234	0.64571	1.0:0.0:0.0:0.0	.	629	Q16832	DDR2_HUMAN	V	629	ENSP00000356899:M629V;ENSP00000356898:M629V	ENSP00000356898:M629V	M	+	1	0	DDR2	161012094	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.205000	0.77881	2.029000	0.59856	0.482000	0.46254	ATG		0.413	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		12	173	0	0	0	0	12	173				
DCAF6	55827	broad.mit.edu	37	1	168014240	168014240	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:168014240C>T	ENST00000312263.6	+	14	2006	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	DCAF6_ENST00000432587.2_Missense_Mutation_p.S647L|DCAF6_ENST00000367840.3_Missense_Mutation_p.S678L|DCAF6_ENST00000367843.3_Missense_Mutation_p.S621L	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	601					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAATCTGCTTCATCTGAAAAA	0.433																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1801-1803)TCA>TTA		IQ motif and WD repeats 1 isoform b							93.0	99.0	97.0					1																	168014240		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168014240C>T	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1802C>T	1.37:g.168014240C>T	ENSP00000311949:p.Ser601Leu					DCAF6_uc001gev.2_Missense_Mutation_p.S621L|DCAF6_uc001gex.2_Missense_Mutation_p.S678L|DCAF6_uc010plk.1_Missense_Mutation_p.S647L|DCAF6_uc001gey.2_Missense_Mutation_p.S474L|DCAF6_uc001gez.2_5'UTR	p.S601L	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			14	2044	+			601					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1802C>T	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627734	0.14257	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.31	1.63	0.23807	WD40 repeat-like-containing domain (1);	0.998072	0.08109	N	0.996558	T	0.07818	0.0196	N	0.19112	0.55	0.30586	N	0.761997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.33650	-0.9860	9	0.22706	T	0.39	.	6.1032	0.20059	0.0:0.555:0.0:0.445	.	647;678;601;621	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	L	621;647;601;678	ENSP00000356817:S621L;ENSP00000396238:S647L;ENSP00000311949:S601L;ENSP00000356814:S678L	ENSP00000311949:S601L	S	+	2	0	DCAF6	166280864	0.000000	0.05858	0.041000	0.18516	0.464000	0.32679	0.454000	0.21827	0.337000	0.23665	-0.373000	0.07131	TCA		0.433	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		43	161	0	0	0	0	43	161				
PRRC2C	23215	broad.mit.edu	37	1	171530231	171530231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:171530231C>G	ENST00000338920.4	+	20	6337	c.6100C>G	c.(6100-6102)Cct>Gct	p.P2034A	PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2034A|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2036A|PRRC2C_ENST00000367742.3_Missense_Mutation_p.P2036A	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2034					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGGATCAGCTCCTTCATCAGA	0.458																																						uc010pmg.1		NA																	0					0						c.(6100-6102)CCT>GCT		HBxAg transactivated protein 2							242.0	239.0	240.0					1																	171530231		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171530231C>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6100C>G	1.37:g.171530231C>G	ENSP00000343629:p.Pro2034Ala					BAT2L2_uc010pmh.1_Missense_Mutation_p.P1011A|BAT2L2_uc010pmi.1_5'UTR	p.P2034A	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			20	6366	+			2034					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.6100C>G	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	A	0.646	-0.811584	0.02798	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01647	4.71;4.71;4.71;4.71	5.33	-10.1	0.00402	.	1.114590	0.06971	N	0.818157	T	0.00178	0.0005	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48937	-0.8990	10	0.05525	T	0.97	.	10.6208	0.45478	0.3215:0.2357:0.4428:0.0	.	2034	Q9Y520-4	.	A	2036;1988;2034;2036;2034;1791	ENSP00000375928:P2036A;ENSP00000410219:P2034A;ENSP00000356716:P2036A;ENSP00000343629:P2034A	ENSP00000343629:P2034A	P	+	1	0	PRRC2C	169796855	0.039000	0.19947	0.631000	0.29282	0.750000	0.42670	-0.866000	0.04245	-2.001000	0.00964	-1.812000	0.00611	CCT		0.458	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		95	269	0	0	0	0	95	269				
PRRC2C	23215	broad.mit.edu	37	1	171560972	171560972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:171560972G>T	ENST00000338920.4	+	34	8677	c.8440G>T	c.(8440-8442)Gaa>Taa	p.E2814*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E2749*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E2895*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E2816*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2893					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CAAAACCGAAGAAACAAAATC	0.478																																						uc010pmg.1		NA																	0					0						c.(8440-8442)GAA>TAA		HBxAg transactivated protein 2							88.0	89.0	88.0					1																	171560972		1843	4083	5926	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171560972G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.8440G>T	1.37:g.171560972G>T	ENSP00000343629:p.Glu2814*					BAT2L2_uc010pmh.1_Nonsense_Mutation_p.E1726*|BAT2L2_uc010pmi.1_Nonsense_Mutation_p.E730*|BAT2L2_uc010pmj.1_Nonsense_Mutation_p.E346*	p.E2814*	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			34	8706	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.8440G>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.999495|15.999495	0.99851|0.99851	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69913	.|0.3164	.|.	.|.	.|.	0.40321|0.40321	D|D	0.978827|0.978827	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67665	.|-0.5612	.|4	0.72032|.	D|.	0.01|.	.|.	19.5655|19.5655	0.95391|0.95391	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	2895;2847;2749;2816;2814;2650|1296	.|.	ENSP00000343629:E2814X|.	E|K	+|+	1|3	0|2	PRRC2C|PRRC2C	169827595|169827595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.954000|8.954000	0.93051|0.93051	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.478	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		38	155	1	0	6.53e-18	7.18e-18	38	155				
SLC9C2	284525	broad.mit.edu	37	1	173545823	173545823	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:173545823C>T	ENST00000367714.3	-	8	1301	c.879G>A	c.(877-879)ccG>ccA	p.P293P	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.P191P	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	293					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.P293P(1)									GTTCGATCTTCGGTTTAAAAG	0.403																																						uc001giz.2		NA																	1	Substitution - coding silent(1)	p.P293P(1)	ovary(1)	ovary(2)	2						c.(877-879)CCG>CCA		solute carrier family 9, member 11							77.0	74.0	75.0					1																	173545823		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173545823C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.879G>A	1.37:g.173545823C>T						SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA	p.P293P	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			8	1302	-			293					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.879G>A	CCDS1308.1																																																																																				0.403	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		12	34	0	0	0	0	12	34				
RABGAP1L	9910	broad.mit.edu	37	1	174363181	174363181	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:174363181G>C	ENST00000251507.4	+	13	1782	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.K183N|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.K499N	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTCTGGTGAAGAGTGGTGTCC	0.473																																						uc001gjx.2		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1606-1608)AAG>AAC		RAB GTPase activating protein 1-like isoform A							167.0	155.0	159.0					1																	174363181		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174363181G>C	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1608G>C	1.37:g.174363181G>C	ENSP00000251507:p.Lys536Asn					RABGAP1L_uc009wwq.1_Missense_Mutation_p.K548N|RABGAP1L_uc001gjw.2_Missense_Mutation_p.K499N|RABGAP1L_uc001gjy.2_Missense_Mutation_p.K204N|RABGAP1L_uc001gjz.2_Missense_Mutation_p.K183N	p.K536N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			13	1803	+			536					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1608G>C	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921411	0.33908	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.27	2.36	0.29203	Rab-GAP/TBC domain (2);	0.242548	0.41823	D	0.000814	T	0.80232	0.4585	M	0.66939	2.045	0.80722	D	1	D;P;B;B;D	0.69078	0.997;0.915;0.149;0.149;0.996	P;B;B;B;P	0.60789	0.879;0.236;0.049;0.049;0.871	T	0.78666	-0.2115	10	0.87932	D	0	.	8.9785	0.35950	0.289:0.0:0.711:0.0	.	548;183;536;536;499	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	N	499;183;536;548;548	ENSP00000350027:K499N;ENSP00000356662:K183N;ENSP00000251507:K536N;ENSP00000403136:K548N	ENSP00000251507:K536N	K	+	3	2	RABGAP1L	172629804	1.000000	0.71417	0.945000	0.38365	0.004000	0.04260	1.053000	0.30442	0.224000	0.20940	-0.126000	0.14955	AAG		0.473	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		45	123	0	0	0	0	45	123				
TNR	7143	broad.mit.edu	37	1	175360470	175360470	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:175360470C>G	ENST00000367674.2	-	7	2169	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	TNR_ENST00000263525.2_Silent_p.L487L			Q92752	TENR_HUMAN	tenascin R	487	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGTTCTTTCAGAGCCACCA	0.557																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1459-1461)CTG>CTC		tenascin R precursor							75.0	76.0	75.0					1																	175360470		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175360470C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1461G>C	1.37:g.175360470C>G						TNR_uc009wwu.1_Silent_p.L487L	p.L487L	NM_003285	NP_003276	Q92752	TENR_HUMAN			5	1542	-	Renal(580;0.146)		487			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.1461G>C	CCDS1318.1																																																																																				0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		31	67	0	0	0	0	31	67				
ASTN1	460	broad.mit.edu	37	1	176983947	176983947	+	Silent	SNP	G	G	A	rs375640704		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:176983947G>A	ENST00000367654.3	-	8	1738	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N	ASTN1_ENST00000361833.2_Silent_p.N501N|ASTN1_ENST00000367657.3_Silent_p.N501N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.N501N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	509					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCCCCATTCGTTCCGAATGC	0.493																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1501-1503)AAC>AAT		astrotactin isoform 1		G	,	0,4406		0,0,2203	482.0	415.0	438.0		1503,1503	-5.8	0.9	1		438	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	501/1295,501/1217	176983947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176983947G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1527C>T	1.37:g.176983947G>A						ASTN1_uc001glb.1_Silent_p.N501N|ASTN1_uc001gld.1_Silent_p.N501N|ASTN1_uc009wwx.1_Silent_p.N501N|ASTN1_uc001gle.3_RNA	p.N501N	NM_004319	NP_004310	O14525	ASTN1_HUMAN			8	1715	-			509					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1503C>T																																																																																					0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		179	419	0	0	0	0	179	419				
RASAL2	9462	broad.mit.edu	37	1	178389654	178389654	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:178389654C>G	ENST00000462775.1	+	3	254	c.129C>G	c.(127-129)ttC>ttG	p.F43L	RASAL2_ENST00000367649.3_Missense_Mutation_p.F191L|RASAL2_ENST00000448150.3_Missense_Mutation_p.F173L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	43	PH.				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)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGGATTCTTCAGCAAGCGCC	0.468																																						uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(127-129)TTC>TTG		RAS protein activator like 2 isoform 1							67.0	65.0	65.0					1																	178389654		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178389654C>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.129C>G	1.37:g.178389654C>G	ENSP00000420558:p.Phe43Leu					RASAL2_uc009wxb.2_Missense_Mutation_p.F191L|RASAL2_uc001glq.2_Missense_Mutation_p.F191L	p.F43L	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			3	254	+			43			PH.		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.129C>G	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	5.835	0.338304	0.11069	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.74842	-0.88;-0.88;2.68	5.81	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	N	0.04959	-0.14	0.48135	D	0.999593	B;B	0.12013	0.0;0.005	B;B	0.06405	0.001;0.002	T	0.47649	-0.9101	10	0.02654	T	1	.	9.5117	0.39080	0.0:0.8435:0.0:0.1565	.	43;191	Q9UJF2;F8W755	NGAP_HUMAN;.	L	173;191;43	ENSP00000407768:F173L;ENSP00000356621:F191L;ENSP00000420558:F43L	ENSP00000356621:F191L	F	+	3	2	RASAL2	176656277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.948000	0.40303	2.750000	0.94351	0.655000	0.94253	TTC		0.468	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		12	51	0	0	0	0	12	51				
CEP350	9857	broad.mit.edu	37	1	179972362	179972362	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:179972362G>C	ENST00000367607.3	+	7	1490	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	358					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGTGTGGCAGGAGGCTGAGTT	0.378																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(1072-1074)GAG>CAG		centrosome-associated protein 350							89.0	83.0	85.0					1																	179972362		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179972362G>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1072G>C	1.37:g.179972362G>C	ENSP00000356579:p.Glu358Gln					CEP350_uc009wxl.2_Missense_Mutation_p.E357Q|CEP350_uc001gnu.2_Missense_Mutation_p.E192Q	p.E358Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			7	1455	+			358					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1072G>C	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096884	0.94197	.	.	ENSG00000135837	ENST00000367607	T	0.63913	-0.07	5.38	5.38	0.77491	.	0.000000	0.40554	U	0.001064	T	0.72078	0.3416	L	0.36672	1.1	0.58432	D	0.999995	D;D	0.89917	0.997;1.0	D;D	0.87578	0.986;0.998	T	0.69412	-0.5152	9	.	.	.	.	18.7335	0.91744	0.0:0.0:1.0:0.0	.	358;358	E7EU22;Q5VT06	.;CE350_HUMAN	Q	358	ENSP00000356579:E358Q	.	E	+	1	0	CEP350	178238985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.496000	0.84212	0.561000	0.74099	GAG		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		14	45	0	0	0	0	14	45				
LHX4	89884	broad.mit.edu	37	1	180199673	180199673	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180199673G>A	ENST00000263726.2	+	1	253	c.9G>A	c.(7-9)caG>caA	p.Q3Q		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	3					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGATGATGCAGAGTGCGACTG	0.522																																						uc001goe.1		NA																	0				ovary(1)	1						c.(7-9)CAG>CAA		LIM homeobox protein 4							45.0	43.0	44.0					1																	180199673		2202	4300	6502	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180199673G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.9G>A	1.37:g.180199673G>A							p.Q3Q	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			1	232	+			3					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.9G>A	CCDS1338.1																																																																																				0.522	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		13	46	0	0	0	0	13	46				
XPR1	9213	broad.mit.edu	37	1	180843068	180843068	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:180843068G>C	ENST00000367590.4	+	13	1996	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	XPR1_ENST00000367589.3_Missense_Mutation_p.E535Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	600	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCCCACTTGAGGTTTTCCG	0.363																																						uc001goi.2		NA																	0					0						c.(1798-1800)GAG>CAG		xenotropic and polytropic retrovirus receptor							95.0	83.0	87.0					1																	180843068		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180843068G>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1798G>C	1.37:g.180843068G>C	ENSP00000356562:p.Glu600Gln					XPR1_uc009wxn.2_Missense_Mutation_p.E535Q	p.E600Q	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			13	1990	+			600			EXS.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1798G>C	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170878	0.94807	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	D;D	0.84442	-1.85;-1.85	5.43	5.43	0.79202	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95207	0.8446	H	0.96301	3.8	0.49483	D	0.999792	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.96505	0.9374	10	0.87932	D	0	-10.2424	18.8267	0.92122	0.0:0.0:1.0:0.0	.	535;600	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	Q	600;535	ENSP00000356562:E600Q;ENSP00000356561:E535Q	ENSP00000356561:E535Q	E	+	1	0	XPR1	179109691	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.715000	0.98748	2.558000	0.86282	0.650000	0.86243	GAG		0.363	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		22	40	0	0	0	0	22	40				
CACNA1E	777	broad.mit.edu	37	1	181689972	181689972	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:181689972C>G	ENST00000367573.2	+	15	1937	c.1937C>G	c.(1936-1938)gCc>gGc	p.A646G	CACNA1E_ENST00000357570.5_Missense_Mutation_p.A597G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A646G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A646G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A253G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A646G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A597G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	646					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCCCTGCAGCCATCATGACT	0.433																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1936-1938)GCC>GGC		calcium channel, voltage-dependent, R type,							67.0	65.0	65.0					1																	181689972		1903	4129	6032	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181689972C>G	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1937C>G	1.37:g.181689972C>G	ENSP00000356545:p.Ala646Gly					CACNA1E_uc009wxs.2_Missense_Mutation_p.A553G	p.A646G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			15	2102	+			646			Extracellular (Potential).|II.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.1937C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361039	0.95877	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08;-5.08;-5.08	5.77	5.77	0.91146	.	0.092983	0.85682	D	0.000000	D	0.99108	0.9693	M	0.79011	2.435	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	D	0.99808	1.1039	10	0.59425	D	0.04	.	19.5894	0.95501	0.0:1.0:0.0:0.0	.	646;646	Q15878-2;Q15878-3	.;.	G	646;646;597;597;253;646;646	ENSP00000356542:A646G;ENSP00000434814:A646G;ENSP00000350183:A597G;ENSP00000351101:A597G;ENSP00000356539:A253G;ENSP00000353222:A646G;ENSP00000356545:A646G	ENSP00000350183:A597G	A	+	2	0	CACNA1E	179956595	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.711000	0.84669	2.720000	0.93068	0.557000	0.71058	GCC		0.433	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	32	0	0	0	0	6	32				
RNASEL	6041	broad.mit.edu	37	1	182555377	182555377	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:182555377C>G	ENST00000367559.3	-	2	818	c.565G>C	c.(565-567)Gat>Cat	p.D189H	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189H|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189H	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502																																						uc001gpj.1		NA																	0				ovary(4)|stomach(1)	5						c.(565-567)GAT>CAT		ribonuclease L							109.0	94.0	99.0					1																	182555377		2203	4300	6503	SO:0001583	missense	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555377C>G	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.565G>C	1.37:g.182555377C>G	ENSP00000356530:p.Asp189His					RNASEL_uc009wxz.1_Missense_Mutation_p.D189H|RNASEL_uc001gpk.2_Missense_Mutation_p.D189H|RNASEL_uc009wya.1_Missense_Mutation_p.D189H	p.D189H	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	732	-			189			ANK 5.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.565G>C	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515307	0.27123	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.66638	-0.22;-0.22;-0.22	4.81	-0.887	0.10587	Ankyrin repeat-containing domain (3);	1.494410	0.03827	N	0.268530	T	0.46014	0.1371	N	0.08118	0	0.09310	N	1	B;B;B	0.18863	0.031;0.031;0.031	B;B;B	0.19666	0.026;0.026;0.026	T	0.34477	-0.9827	10	0.41790	T	0.15	-1.9781	6.5213	0.22277	0.0:0.3766:0.341:0.2825	.	189;189;189	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	H	189	ENSP00000356530:D189H;ENSP00000411147:D189H;ENSP00000440844:D189H	ENSP00000356530:D189H	D	-	1	0	RNASEL	180822000	0.001000	0.12720	0.000000	0.03702	0.101000	0.19017	-0.153000	0.10144	-0.157000	0.11059	0.563000	0.77884	GAT		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		32	93	0	0	0	0	32	93				
LAMC2	3918	broad.mit.edu	37	1	183196670	183196670	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183196670G>A	ENST00000264144.4	+	10	1371	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	LAMC2_ENST00000493293.1_Missense_Mutation_p.E436K	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	436	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTCAGGGGATGAGAATCCTGA	0.522																																						uc001gqa.2		NA																	0				skin(2)|ovary(1)	3						c.(1306-1308)GAG>AAG		laminin, gamma 2 isoform a precursor							170.0	174.0	172.0					1																	183196670		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183196670G>A	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1306G>A	1.37:g.183196670G>A	ENSP00000264144:p.Glu436Lys					LAMC2_uc001gpz.3_Missense_Mutation_p.E436K|LAMC2_uc010poa.1_Missense_Mutation_p.E136K	p.E436K	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			10	1620	+			436			Laminin EGF-like 5.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.1306G>A	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256063	0.59321	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17054	2.45;2.3	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;P;D	0.85130	0.994;0.906;0.997	T	0.02126	-1.1209	10	0.44086	T	0.13	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	436;436;436	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	K	436	ENSP00000432063:E436K;ENSP00000264144:E436K	ENSP00000264144:E436K	E	+	1	0	LAMC2	181463293	1.000000	0.71417	0.993000	0.49108	0.890000	0.51754	4.223000	0.58587	2.614000	0.88457	0.643000	0.83706	GAG		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		55	262	0	0	0	0	55	262				
COLGALT2	23127	broad.mit.edu	37	1	183938448	183938448	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:183938448T>C	ENST00000361927.4	-	5	1158	c.787A>G	c.(787-789)Acc>Gcc	p.T263A	COLGALT2_ENST00000546159.1_Missense_Mutation_p.T263A	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	263					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TCATCAAAGGTCCAGGTGTAG	0.527																																						uc001gqr.2		NA																	0				ovary(1)|breast(1)	2						c.(787-789)ACC>GCC		glycosyltransferase 25 domain containing 2							124.0	111.0	115.0					1																	183938448		2203	4300	6503	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183938448T>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.787A>G	1.37:g.183938448T>C	ENSP00000354960:p.Thr263Ala					GLT25D2_uc010poj.1_Missense_Mutation_p.T263A|GLT25D2_uc001gqs.2_Missense_Mutation_p.T143A	p.T263A	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			5	1159	-			263					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.787A>G	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731394	0.30684	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.23348	1.91;1.91	5.45	4.32	0.51571	.	0.113859	0.64402	D	0.000007	T	0.05547	0.0146	N	0.00186	-1.895	0.37572	D	0.919465	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.14839	-1.0458	10	0.16420	T	0.52	-22.6671	8.5687	0.33556	0.0:0.1492:0.0:0.8508	.	263;263	F5H3T5;Q8IYK4	.;GT252_HUMAN	A	263	ENSP00000439112:T263A;ENSP00000354960:T263A	ENSP00000354960:T263A	T	-	1	0	GLT25D2	182205071	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.295000	0.43576	0.908000	0.36671	0.482000	0.46254	ACC		0.527	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		27	94	0	0	0	0	27	94				
ASPM	259266	broad.mit.edu	37	1	197070880	197070880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:197070880G>A	ENST00000367409.4	-	18	7757	c.7501C>T	c.(7501-7503)Cag>Tag	p.Q2501*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2501					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCCAAGTCTGAAATGTAATA	0.348																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7501-7503)CAG>TAG		asp (abnormal spindle)-like, microcephaly							93.0	94.0	93.0					1																	197070880		2203	4298	6501	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070880G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7501C>T	1.37:g.197070880G>A	ENSP00000356379:p.Gln2501*					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Nonsense_Mutation_p.Q349*	p.Q2501*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7758	-			2501					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.7501C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	49	15.501919	0.99836	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	.	.	.	4.83	3.89	0.44902	.	0.444648	0.21066	N	0.080752	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.4879	0.67629	0.0:0.0:0.8517:0.1483	.	.	.	.	X	2501;487	.	ENSP00000356376:Q487X	Q	-	1	0	ASPM	195337503	1.000000	0.71417	0.836000	0.33094	0.851000	0.48451	6.128000	0.71650	1.084000	0.41184	0.558000	0.71614	CAG		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		44	123	0	0	0	0	44	123				
NR5A2	2494	broad.mit.edu	37	1	200143123	200143123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:200143123G>C	ENST00000367362.3	+	8	1657	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	NR5A2_ENST00000236914.3_Missense_Mutation_p.E425Q|NR5A2_ENST00000544748.1_Missense_Mutation_p.E399Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	471					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCAGCTGGTAGAAGGTGTCCA	0.393																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1411-1413)GAA>CAA		nuclear receptor subfamily 5, group A, member 2							30.0	28.0	29.0					1																	200143123		2203	4297	6500	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200143123G>C	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1411G>C	1.37:g.200143123G>C	ENSP00000356331:p.Glu471Gln					NR5A2_uc001gvc.2_Missense_Mutation_p.E425Q|NR5A2_uc009wzh.2_Missense_Mutation_p.E431Q|NR5A2_uc010pph.1_Missense_Mutation_p.E399Q	p.E471Q	NM_205860	NP_995582	O00482	NR5A2_HUMAN			8	1617	+	Prostate(682;0.19)		471					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.1411G>C	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371335	0.82573	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	T;T;T	0.59083	0.29;0.29;0.29	5.67	5.67	0.87782	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.74881	2.28	0.80722	D	1	B;B	0.26708	0.157;0.082	B;B	0.35470	0.203;0.203	T	0.60939	-0.7163	9	.	.	.	.	19.7806	0.96414	0.0:0.0:1.0:0.0	.	425;471	F1D8R9;O00482	.;NR5A2_HUMAN	Q	471;425;399	ENSP00000356331:E471Q;ENSP00000236914:E425Q;ENSP00000439116:E399Q	.	E	+	1	0	NR5A2	198409746	1.000000	0.71417	0.957000	0.39632	0.985000	0.73830	9.860000	0.99555	2.669000	0.90835	0.650000	0.86243	GAA		0.393	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			3	15	0	0	0	0	3	15				
LGR6	59352	broad.mit.edu	37	1	202288024	202288024	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:202288024G>A	ENST00000367278.3	+	18	2682	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	LGR6_ENST00000439764.2_Missense_Mutation_p.D726N|LGR6_ENST00000255432.7_Missense_Mutation_p.D813N	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	865					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGCTCCTGTGATTCTACCCA	0.652																																						uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2593-2595)GAT>AAT		leucine-rich repeat-containing G protein-coupled							51.0	60.0	57.0					1																	202288024		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288024G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2593G>A	1.37:g.202288024G>A	ENSP00000356247:p.Asp865Asn					LGR6_uc001gxv.2_Missense_Mutation_p.D813N|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.D726N	p.D865N	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2593	+			865			Cytoplasmic (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2593G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402759	0.42613	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.65732	-0.17;0.16;0.23	4.42	3.51	0.40186	.	0.194366	0.42821	N	0.000642	T	0.61375	0.2342	L	0.58810	1.83	0.38520	D	0.948692	P;P;B	0.49559	0.925;0.538;0.265	P;B;B	0.46758	0.526;0.248;0.191	T	0.63238	-0.6682	10	0.28530	T	0.3	.	12.762	0.57370	0.0803:0.0:0.9197:0.0	.	726;813;865	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	N	865;813;726	ENSP00000356247:D865N;ENSP00000255432:D813N;ENSP00000387869:D726N	ENSP00000255432:D813N	D	+	1	0	LGR6	200554647	1.000000	0.71417	0.329000	0.25429	0.538000	0.34931	7.614000	0.82996	1.224000	0.43551	0.485000	0.47835	GAT		0.652	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		33	97	0	0	0	0	33	97				
MYOG	4656	broad.mit.edu	37	1	203054939	203054939	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203054939C>T	ENST00000241651.4	-	1	225	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	51					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCCTTGTCCTCAAGGGGCCCT	0.672																																						uc001gzd.2		NA																	0				skin(2)	2						c.(151-153)GAG>AAG		myogenin							40.0	45.0	43.0					1																	203054939		2203	4300	6503	SO:0001583	missense	4656				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr1:203054939C>T	BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.151G>A	1.37:g.203054939C>T	ENSP00000241651:p.Glu51Lys						p.E51K	NM_002479	NP_002470	P15173	MYOG_HUMAN			1	439	-			51					Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	c.151G>A	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	18.67	3.673980	0.67928	.	.	ENSG00000122180	ENST00000241651	D	0.82433	-1.61	5.68	5.68	0.88126	Myogenic basic muscle-specific protein (2);	0.240921	0.41194	D	0.000921	D	0.85961	0.5819	M	0.71581	2.175	0.51767	D	0.999939	P	0.41420	0.749	P	0.45753	0.492	D	0.87168	0.2219	10	0.66056	D	0.02	.	16.7634	0.85517	0.0:0.8713:0.1287:0.0	.	51	P15173	MYOG_HUMAN	K	51	ENSP00000241651:E51K	ENSP00000241651:E51K	E	-	1	0	MYOG	201321562	0.997000	0.39634	0.921000	0.36526	0.300000	0.27592	3.613000	0.54152	2.679000	0.91253	0.558000	0.71614	GAG		0.672	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479		40	77	0	0	0	0	40	77				
FMOD	2331	broad.mit.edu	37	1	203316468	203316468	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316468C>G	ENST00000354955.4	-	2	1394	c.931G>C	c.(931-933)Gtc>Ctc	p.V311L	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	311					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TTGGTGTTGACTGGGGGGATC	0.527																																						uc001gzr.2		NA																	0				ovary(2)|breast(1)	3						c.(931-933)GTC>CTC		fibromodulin precursor							142.0	133.0	136.0					1																	203316468		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316468C>G	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.931G>C	1.37:g.203316468C>G	ENSP00000347041:p.Val311Leu					FMOD_uc010pqi.1_RNA	p.V311L	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1067	-			311			LRR 9.		Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.931G>C	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834964	0.71373	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04194	3.68	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	N	0.13198	0.31	0.58432	D	0.999999	D	0.53312	0.959	P	0.50109	0.631	T	0.42849	-0.9427	10	0.56958	D	0.05	-29.0958	17.493	0.87709	0.0:1.0:0.0:0.0	.	311	Q06828	FMOD_HUMAN	L	298;311	ENSP00000347041:V311L	ENSP00000347041:V311L	V	-	1	0	FMOD	201583091	1.000000	0.71417	0.901000	0.35422	0.958000	0.62258	4.544000	0.60691	2.461000	0.83175	0.655000	0.94253	GTC		0.527	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		41	133	0	0	0	0	41	133				
FMOD	2331	broad.mit.edu	37	1	203316478	203316478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:203316478C>G	ENST00000354955.4	-	2	1384	c.921G>C	c.(919-921)aaG>aaC	p.K307N	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	307					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGGGGGATCTTCTGCAGCT	0.542																																						uc001gzr.2		NA																	0				ovary(2)|breast(1)	3						c.(919-921)AAG>AAC		fibromodulin precursor							149.0	139.0	142.0					1																	203316478		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316478C>G	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.921G>C	1.37:g.203316478C>G	ENSP00000347041:p.Lys307Asn					FMOD_uc010pqi.1_RNA	p.K307N	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1057	-			307			LRR 9.		Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.921G>C	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230029	0.39399	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04406	3.63	5.27	5.27	0.74061	.	0.177783	0.48767	D	0.000173	T	0.04452	0.0122	N	0.16833	0.445	0.46823	D	0.999215	D	0.53151	0.958	P	0.45343	0.477	T	0.59516	-0.7440	10	0.22706	T	0.39	-15.571	12.5816	0.56393	0.1659:0.8341:0.0:0.0	.	307	Q06828	FMOD_HUMAN	N	294;307	ENSP00000347041:K307N	ENSP00000347041:K307N	K	-	3	2	FMOD	201583101	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.451000	0.35145	2.461000	0.83175	0.655000	0.94253	AAG		0.542	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		43	132	0	0	0	0	43	132				
CNTN2	6900	broad.mit.edu	37	1	205027723	205027723	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205027723G>A	ENST00000331830.4	+	5	703	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	140	Ig-like C2-type 2.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGGAGGAGCGAGACCCAGTG	0.622																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(418-420)CGA>CAA		contactin 2 precursor							48.0	46.0	46.0					1																	205027723		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027723G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.419G>A	1.37:g.205027723G>A	ENSP00000330633:p.Arg140Gln					CNTN2_uc001hbq.1_Missense_Mutation_p.R31Q|CNTN2_uc009xbi.2_Missense_Mutation_p.R31Q|CNTN2_uc001hbs.2_5'Flank	p.R140Q	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		5	688	+	all_cancers(21;0.144)|Breast(84;0.0437)		140			Ig-like C2-type 2.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.419G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	35	5.423706	0.96111	.	.	ENSG00000184144	ENST00000331830	T	0.76448	-1.02	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45126	D	0.000396	D	0.85948	0.5816	L	0.60957	1.885	0.58432	D	0.999992	D;D;D	0.89917	0.991;0.991;1.0	D;D;D	0.80764	0.929;0.929;0.994	D	0.86726	0.1945	10	0.52906	T	0.07	.	17.4492	0.87587	0.0:0.0:1.0:0.0	.	140;140;31	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	Q	140	ENSP00000330633:R140Q	ENSP00000330633:R140Q	R	+	2	0	CNTN2	203294346	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.218000	0.95166	2.223000	0.72356	0.555000	0.69702	CGA		0.622	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		28	18	0	0	0	0	28	18				
CDK18	5129	broad.mit.edu	37	1	205495256	205495256	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:205495256G>C	ENST00000360066.2	+	6	821	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CDK18_ENST00000429964.2_Missense_Mutation_p.E174Q|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.E204Q	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCCCTGAAAGAGATCCGGCT	0.647																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2		NA																	0				stomach(2)	2						c.(610-612)GAG>CAG		PCTAIRE protein kinase 3 isoform a							62.0	51.0	55.0					1																	205495256		2203	4300	6503	SO:0001583	missense	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205495256G>C	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.520G>C	1.37:g.205495256G>C	ENSP00000353176:p.Glu174Gln					CDK18_uc010pri.1_Missense_Mutation_p.R194T|CDK18_uc001hcp.2_Missense_Mutation_p.E174Q|CDK18_uc001hcq.2_Missense_Mutation_p.E174Q|CDK18_uc010prj.1_Missense_Mutation_p.E85Q|CDK18_uc001hcs.2_Missense_Mutation_p.E85Q|CDK18_uc009xbm.1_Missense_Mutation_p.E85Q	p.E204Q	NM_212503	NP_997668	Q07002	CDK18_HUMAN			6	829	+			172			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	c.610G>C	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799992	0.90538	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000478560;ENST00000419301	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.81914	0.987;0.995;0.991;0.986	T	0.57820	-0.7745	10	0.72032	D	0.01	-26.3918	16.4	0.83637	0.0:0.0:1.0:0.0	.	136;172;204;174	Q59G02;Q07002;Q07002-3;Q07002-2	.;CDK18_HUMAN;.;.	Q	174;204;174;85;204	ENSP00000399082:E174Q;ENSP00000423665:E204Q;ENSP00000353176:E174Q;ENSP00000423408:E85Q;ENSP00000391324:E204Q	ENSP00000353176:E174Q	E	+	1	0	CDK18	203761879	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.830000	0.99415	2.194000	0.70268	0.561000	0.74099	GAG		0.647	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		10	28	0	0	0	0	10	28				
IL10	3586	broad.mit.edu	37	1	206942023	206942023	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:206942023G>A	ENST00000423557.1	-	5	553	c.495C>T	c.(493-495)atC>atT	p.I165I	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	165					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTATGTAGTTGATGAAGATGT	0.408																																						uc001hen.1		NA																	0					0						c.(493-495)ATC>ATT		interleukin 10 precursor							145.0	124.0	131.0					1																	206942023		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206942023G>A	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.495C>T	1.37:g.206942023G>A							p.I165I	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	554	-	Breast(84;0.183)		165						Silent	SNP	ENST00000423557.1	37	c.495C>T	CCDS1467.1																																																																																				0.408	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		33	31	0	0	0	0	33	31				
CD46	4179	broad.mit.edu	37	1	207925591	207925591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:207925591C>T	ENST00000358170.2	+	1	190	c.34C>T	c.(34-36)Cct>Tct	p.P12S	CD46_ENST00000357714.1_Missense_Mutation_p.P12S|CD46_ENST00000480003.1_Missense_Mutation_p.P12S|CD46_ENST00000360212.2_Missense_Mutation_p.P12S|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Missense_Mutation_p.P12S|CD46_ENST00000322918.5_Missense_Mutation_p.P12S|CD46_ENST00000441839.2_Missense_Mutation_p.P12S|CD46_ENST00000367041.1_Missense_Mutation_p.P12S|CD46_ENST00000367042.1_Missense_Mutation_p.P12S|CD46_ENST00000354848.1_Missense_Mutation_p.P12S|CD46_ENST00000361067.1_Missense_Mutation_p.P12S|CD46_ENST00000322875.4_Missense_Mutation_p.P12S	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	12					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GTGTCCCTTTCCTTCCTGGCG	0.667																																						uc001hgc.2		NA																	0				large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(34-36)CCT>TCT		CD46 antigen, complement regulatory protein							171.0	195.0	187.0					1																	207925591		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207925591C>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.34C>T	1.37:g.207925591C>T	ENSP00000350893:p.Pro12Ser					CD46_uc001hgd.2_Missense_Mutation_p.P12S|CD46_uc001hge.2_Missense_Mutation_p.P12S|CD46_uc001hgf.2_Missense_Mutation_p.P12S|CD46_uc001hgg.2_Missense_Mutation_p.P12S|CD46_uc001hgh.2_Missense_Mutation_p.P12S|CD46_uc001hgi.2_Missense_Mutation_p.P12S|CD46_uc001hgj.2_Missense_Mutation_p.P12S|CD46_uc001hgk.2_Missense_Mutation_p.P12S|CD46_uc001hgl.2_Missense_Mutation_p.P12S|CD46_uc001hgm.2_Missense_Mutation_p.P12S|CD46_uc001hgn.2_Missense_Mutation_p.P12S|CD46_uc001hgo.2_Missense_Mutation_p.P12S|CD46_uc001hgp.2_Missense_Mutation_p.P12S	p.P12S	NM_002389	NP_002380	P15529	MCP_HUMAN			1	190	+			12					A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.34C>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	C	3.468	-0.108464	0.06924	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.34072	1.53;1.5;1.56;1.5;1.53;1.55;1.5;1.38;1.41;1.46;1.57;1.49	3.2	-6.41	0.01938	.	2.968080	0.01615	N	0.022719	T	0.15522	0.0374	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23377	0.002;0.001;0.004;0.001;0.011;0.027;0.001;0.002;0.001;0.003;0.001;0.027;0.084;0.016	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20184	0.003;0.002;0.003;0.005;0.013;0.019;0.003;0.002;0.002;0.003;0.002;0.019;0.028;0.008	T	0.17471	-1.0368	10	0.09843	T	0.71	.	0.3271	0.00312	0.3662:0.15:0.2414:0.2424	.	12;12;12;12;12;12;12;12;12;12;12;12;12;12	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	S	12	ENSP00000350893:P12S;ENSP00000346912:P12S;ENSP00000314664:P12S;ENSP00000356009:P12S;ENSP00000356008:P12S;ENSP00000350346:P12S;ENSP00000313875:P12S;ENSP00000356014:P12S;ENSP00000413543:P12S;ENSP00000354358:P12S;ENSP00000353342:P12S;ENSP00000418471:P12S	ENSP00000313875:P12S	P	+	1	0	CD46	205992214	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.600000	0.00418	-1.571000	0.01663	-0.356000	0.07607	CCT		0.667	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		106	311	0	0	0	0	106	311				
INTS7	25896	broad.mit.edu	37	1	212161241	212161241	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212161241G>T	ENST00000366994.3	-	8	1088	c.984C>A	c.(982-984)ttC>ttA	p.F328L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.F328L|INTS7_ENST00000366992.3_Missense_Mutation_p.F328L|INTS7_ENST00000440600.2_Missense_Mutation_p.F279L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	328					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GAACTATACTGAAGTAATGTT	0.388																																						uc001hiw.1		NA																	0					0						c.(982-984)TTC>TTA		integrator complex subunit 7							175.0	154.0	161.0					1																	212161241		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212161241G>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.984C>A	1.37:g.212161241G>T	ENSP00000355961:p.Phe328Leu					INTS7_uc009xdb.1_Missense_Mutation_p.F328L|INTS7_uc001hix.1_Missense_Mutation_p.F204L|INTS7_uc001hiy.1_Missense_Mutation_p.F328L|INTS7_uc010pta.1_Missense_Mutation_p.F279L	p.F328L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	8	1089	-			328					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.984C>A	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258276	0.39896	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.94	2.05	0.26809	Armadillo-type fold (1);	0.047706	0.85682	D	0.000000	T	0.08133	0.0203	N	0.05078	-0.115	0.47511	D	0.999449	B;B;B;B	0.11235	0.004;0.004;0.002;0.002	B;B;B;B	0.11329	0.006;0.006;0.001;0.002	T	0.22906	-1.0203	10	0.07482	T	0.82	-19.0187	9.3969	0.38408	0.2309:0.0:0.7691:0.0	.	279;328;328;328	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	L	328;328;328;279	ENSP00000355961:F328L;ENSP00000355960:F328L;ENSP00000355959:F328L;ENSP00000388908:F279L	ENSP00000355959:F328L	F	-	3	2	INTS7	210227864	1.000000	0.71417	0.981000	0.43875	0.841000	0.47740	1.737000	0.38197	0.509000	0.28195	0.591000	0.81541	TTC		0.388	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		18	62	1	0	2.35e-11	2.54e-11	18	62				
NSL1	25936	broad.mit.edu	37	1	212964964	212964964	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:212964964C>T	ENST00000366977.3	-	1	160	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000473995.1_5'Flank|NSL1_ENST00000366975.6_Missense_Mutation_p.E48K|TATDN3_ENST00000532324.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000422588.2_Missense_Mutation_p.E48K|NSL1_ENST00000366978.1_5'Flank|NSL1_ENST00000366976.1_Missense_Mutation_p.E48K|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000526641.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	48					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TGTAGCATTTCGGTCACAGCC	0.652																																						uc001hjn.2		NA																	0				skin(1)	1						c.(142-144)GAA>AAA		NSL1, MIND kinetochore complex component isoform							67.0	75.0	72.0					1																	212964964		2201	4300	6501	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964964C>T	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.142G>A	1.37:g.212964964C>T	ENSP00000355944:p.Glu48Lys					NSL1_uc001hjm.2_Missense_Mutation_p.E48K|NSL1_uc010pti.1_Missense_Mutation_p.E48K|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	p.E48K	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	176	-			48					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.142G>A	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057198	0.76074	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.53423	1.23;0.62;1.14;0.68	5.13	5.13	0.70059	.	0.294586	0.37178	N	0.002218	T	0.62660	0.2446	M	0.68952	2.095	0.27752	N	0.944113	D;D;D	0.76494	0.977;0.998;0.999	P;P;P	0.61201	0.532;0.678;0.885	T	0.58934	-0.7548	9	.	.	.	-17.4255	13.9695	0.64230	0.0:1.0:0.0:0.0	.	48;48;48	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	K	48	ENSP00000355944:E48K;ENSP00000388406:E48K;ENSP00000355942:E48K;ENSP00000355943:E48K	.	E	-	1	0	NSL1	211031587	0.494000	0.26043	0.470000	0.27216	0.322000	0.28314	3.483000	0.53194	2.656000	0.90262	0.655000	0.94253	GAA		0.652	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		41	140	0	0	0	0	41	140				
MARK1	4139	broad.mit.edu	37	1	220809219	220809219	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:220809219C>G	ENST00000366917.4	+	13	1587	c.1321C>G	c.(1321-1323)Cag>Gag	p.Q441E	MARK1_ENST00000366918.4_Missense_Mutation_p.Q419E|MARK1_ENST00000402574.1_Missense_Mutation_p.Q306E					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAAAAGACCTCAGGCTAACAG	0.408																																						uc001hmn.3		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1321-1323)CAG>GAG		MAP/microtubule affinity-regulating kinase 1							97.0	93.0	94.0					1																	220809219		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220809219C>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1321C>G	1.37:g.220809219C>G	ENSP00000355884:p.Gln441Glu					MARK1_uc009xdw.2_Missense_Mutation_p.Q441E|MARK1_uc010pun.1_Missense_Mutation_p.Q441E|MARK1_uc001hmm.3_Missense_Mutation_p.Q419E	p.Q441E	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	13	1918	+			441						Missense_Mutation	SNP	ENST00000366917.4	37	c.1321C>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585628	0.46110	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.37411	1.2;1.2;1.2	6.03	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	M	0.62723	1.935	0.54753	D	0.999982	B;B;B;P	0.40660	0.354;0.081;0.048;0.726	B;B;B;B	0.42555	0.138;0.083;0.025;0.391	T	0.09840	-1.0656	10	0.24483	T	0.36	.	15.7129	0.77644	0.0:0.9337:0.0:0.0663	.	441;306;441;419	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	E	306;419;441	ENSP00000386017:Q306E;ENSP00000355885:Q419E;ENSP00000355884:Q441E	ENSP00000355884:Q441E	Q	+	1	0	MARK1	218875842	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.580000	0.67464	2.861000	0.98227	0.655000	0.94253	CAG		0.408	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			30	76	0	0	0	0	30	76				
MIA3	375056	broad.mit.edu	37	1	222802603	222802603	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:222802603G>A	ENST00000344922.5	+	4	2066	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	MIA3_ENST00000344441.6_Missense_Mutation_p.E681K|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	681					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTCTGAGGGAGAAGCCAAAGA	0.498																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2041-2043)GAA>AAA		melanoma inhibitory activity family, member 3							73.0	75.0	74.0					1																	222802603		1948	4136	6084	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802603G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2041G>A	1.37:g.222802603G>A	ENSP00000340900:p.Glu681Lys					MIA3_uc009xea.1_Missense_Mutation_p.E517K	p.E681K	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2050	+			681			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2041G>A	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089862|2.089862	0.36855|0.36855	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05199|.	3.48;3.48|.	4.36|4.36	3.42|3.42	0.39159|0.39159	.|.	.|.	.|.	.|.	.|.	T|T	0.42921|0.42921	0.1224|0.1224	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;P|.	0.39060|.	0.057;0.657|.	B;B|.	0.35182|.	0.034;0.197|.	T|T	0.27054|0.27054	-1.0085|-1.0085	9|5	0.49607|.	T|.	0.09|.	.|.	7.1891|7.1891	0.25816|0.25816	0.2225:0.0:0.7775:0.0|0.2225:0.0:0.7775:0.0	.|.	681;681|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|K	681|263	ENSP00000340900:E681K;ENSP00000340587:E681K|.	ENSP00000325973:E681K|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220869226|220869226	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.010000|0.010000	0.07245|0.07245	1.256000|1.256000	0.32921|0.32921	2.139000|2.139000	0.66308|0.66308	0.313000|0.313000	0.20887|0.20887	GAA|AGA		0.498	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		33	112	0	0	0	0	33	112				
SUSD4	55061	broad.mit.edu	37	1	223438081	223438081	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:223438081C>T	ENST00000343846.3	-	4	1248	c.615G>A	c.(613-615)gtG>gtA	p.V205V	SUSD4_ENST00000344029.6_Silent_p.V205V|SUSD4_ENST00000484758.2_Silent_p.V134V|SUSD4_ENST00000454695.2_Silent_p.V45V|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Silent_p.V205V|SUSD4_ENST00000366878.4_Silent_p.V205V			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	205	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GATAGGAGATCACAGTCCCCA	0.512																																						uc001hnx.2		NA																	0					0						c.(613-615)GTG>GTA		sushi domain containing 4 isoform a							94.0	98.0	97.0					1																	223438081		2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223438081C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.615G>A	1.37:g.223438081C>T						SUSD4_uc001hny.3_Silent_p.V205V|SUSD4_uc010puw.1_Silent_p.V45V|SUSD4_uc001hnz.2_Silent_p.V205V|SUSD4_uc010pux.1_Silent_p.V134V	p.V205V	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	4	1249	-			205			Sushi 3.|Extracellular (Potential).		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.615G>A	CCDS41471.1																																																																																				0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		46	117	0	0	0	0	46	117				
TARBP1	6894	broad.mit.edu	37	1	234546228	234546228	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:234546228G>C	ENST00000040877.1	-	23	3754	c.3755C>G	c.(3754-3756)tCa>tGa	p.S1252*	TARBP1_ENST00000483404.1_5'Flank	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1252					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCTAAATGTGATAAAACTGC	0.259																																						uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(3754-3756)TCA>TGA		TAR RNA binding protein 1							53.0	57.0	55.0					1																	234546228		2201	4295	6496	SO:0001587	stop_gained	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234546228G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3755C>G	1.37:g.234546228G>C	ENSP00000040877:p.Ser1252*						p.S1252*	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		23	3755	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1252					Q9H581	Nonsense_Mutation	SNP	ENST00000040877.1	37	c.3755C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	38	7.121638	0.98077	.	.	ENSG00000059588	ENST00000040877	.	.	.	4.73	4.73	0.59995	.	0.502488	0.21082	N	0.080477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-9.5286	16.4216	0.83760	0.0:0.0:1.0:0.0	.	.	.	.	X	1252	.	ENSP00000040877:S1252X	S	-	2	0	TARBP1	232612851	0.994000	0.37717	0.993000	0.49108	0.108000	0.19459	6.017000	0.70805	2.609000	0.88269	0.467000	0.42956	TCA		0.259	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		10	92	0	0	0	0	10	92				
ERO1LB	56605	broad.mit.edu	37	1	236399689	236399689	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:236399689G>T	ENST00000354619.5	-	7	716	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	172					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	AGCAGCTGGAGATCTCTCATC	0.403																																						uc001hxt.2		NA																	0					0						c.(514-516)TCT>TAT		endoplasmic reticulum oxidoreductin 1-Lbeta							113.0	116.0	115.0					1																	236399689		2203	4300	6503	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236399689G>T	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.515C>A	1.37:g.236399689G>T	ENSP00000346635:p.Ser172Tyr					ERO1LB_uc010pxt.1_3'UTR	p.S172Y	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		7	771	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	172					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.515C>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564476	0.86439	.	.	ENSG00000086619	ENST00000354619;ENST00000366589	T;T	0.49432	0.78;0.78	5.9	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79252	-0.1880	10	0.87932	D	0	-20.8625	15.4734	0.75458	0.0674:0.0:0.9326:0.0	.	172	Q86YB8	ERO1B_HUMAN	Y	172;53	ENSP00000346635:S172Y;ENSP00000355548:S53Y	ENSP00000346635:S172Y	S	-	2	0	ERO1LB	234466312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.984000	0.88150	2.786000	0.95864	0.563000	0.77884	TCT		0.403	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		61	144	1	0	7.92e-34	8.84e-34	61	144				
OR2W5	441932	broad.mit.edu	37	1	247655066	247655066	+	RNA	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247655066C>T	ENST00000522351.1	+	0	697							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGCCGCTCTCCCTCATCCTCA	0.562																																						uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(637-639)CCT>TCT		olfactory receptor, family 2, subfamily W,							114.0	116.0	115.0					1																	247655066		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655066C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655066C>T							p.P213S	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	637	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	213					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.637C>T																																																																																					0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		10	150	0	0	0	0	10	150				
OR2G2	81470	broad.mit.edu	37	1	247751981	247751981	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:247751981C>T	ENST00000320065.1	+	1	320	c.320C>T	c.(319-321)tCc>tTc	p.S107F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	107						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(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTACAACTCCCATGCCCTG	0.537																																						uc010pyy.1		NA																	0					0						c.(319-321)TCC>TTC		olfactory receptor, family 2, subfamily G,							242.0	191.0	208.0					1																	247751981		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751981C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.320C>T	1.37:g.247751981C>T	ENSP00000326349:p.Ser107Phe						p.S107F	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	320	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		107			Helical; Name=3; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.320C>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	1.276	-0.611810	0.03690	.	.	ENSG00000177489	ENST00000320065	T	0.02890	4.12	4.29	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.248381	0.20665	U	0.087954	T	0.01661	0.0053	N	0.00517	-1.405	0.09310	N	1	D	0.69078	0.997	D	0.70935	0.971	T	0.53493	-0.8431	10	0.02654	T	1	.	5.5024	0.16836	0.1967:0.6979:0.0:0.1054	.	107	Q8NGZ5	OR2G2_HUMAN	F	107	ENSP00000326349:S107F	ENSP00000326349:S107F	S	+	2	0	OR2G2	245818604	0.000000	0.05858	0.180000	0.23079	0.647000	0.38526	0.530000	0.23036	2.206000	0.71126	0.591000	0.81541	TCC		0.537	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			58	161	0	0	0	0	58	161				
ZMYND11	10771	broad.mit.edu	37	10	294371	294371	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:294371G>A	ENST00000397962.3	+	13	1751	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	ZMYND11_ENST00000381584.1_Silent_p.K424K|ZMYND11_ENST00000545619.1_Silent_p.K321K|ZMYND11_ENST00000602682.1_Silent_p.K356K|ZMYND11_ENST00000309776.4_Silent_p.K401K|ZMYND11_ENST00000509513.2_Silent_p.K440K|ZMYND11_ENST00000402736.1_Silent_p.K410K|ZMYND11_ENST00000381604.4_Silent_p.K401K|ZMYND11_ENST00000558098.2_Silent_p.K441K|ZMYND11_ENST00000397959.3_Silent_p.K356K|ZMYND11_ENST00000535374.1_Silent_p.K236K|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381607.4_Silent_p.K347K|ZMYND11_ENST00000381591.1_Silent_p.K441K|ZMYND11_ENST00000381602.4_Silent_p.K401K|ZMYND11_ENST00000403354.1_Silent_p.K361K			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	441					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCAGACAAAGAAGTTAAGTG	0.488																																						uc010pzt.1		NA																	0					0						c.(1321-1323)AAG>AAA		zinc finger, MYND domain containing 11 isoform							120.0	115.0	117.0					10																	294371		2203	4300	6503	SO:0001819	synonymous_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:294371G>A	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.1323G>A	10.37:g.294371G>A						ZMYND11_uc001ifk.2_Silent_p.K440K|ZMYND11_uc010pzu.1_Silent_p.K441K|ZMYND11_uc010pzv.1_Silent_p.K386K|ZMYND11_uc010pzw.1_Silent_p.K356K|ZMYND11_uc001ifm.2_Silent_p.K387K|ZMYND11_uc010pzx.1_Silent_p.K441K|ZMYND11_uc001ifn.2_Silent_p.K387K|ZMYND11_uc009xhg.2_Silent_p.K424K|ZMYND11_uc009xhh.2_Silent_p.K315K|ZMYND11_uc010pzy.1_Silent_p.K293K	p.K441K	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	13	1751	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	401					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	c.1323G>A	CCDS7052.2																																																																																				0.488	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		48	66	0	0	0	0	48	66				
GDI2	2665	broad.mit.edu	37	10	5807996	5807996	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:5807996C>G	ENST00000380191.4	-	11	1601	c.1311G>C	c.(1309-1311)aaG>aaC	p.K437N	GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.K441N|GDI2_ENST00000380181.3_Missense_Mutation_p.K392N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	437					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TGTCATTCTTCTTGCGCTTCA	0.338																																						uc001iil.3		NA																	0					0						c.(1309-1311)AAG>AAC		GDP dissociation inhibitor 2 isoform 1							241.0	213.0	222.0					10																	5807996		2203	4300	6503	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5807996C>G	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1311G>C	10.37:g.5807996C>G	ENSP00000369538:p.Lys437Asn					GDI2_uc001iim.3_Missense_Mutation_p.K392N|GDI2_uc009xid.2_Missense_Mutation_p.K441N	p.K437N	NM_001494	NP_001485	P50395	GDIB_HUMAN			11	1602	-			437					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.1311G>C	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420824	0.42918	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181	D;D;D	0.86097	-2.07;-2.07;-2.07	5.93	5.93	0.95920	.	0.088825	0.85682	D	0.000000	T	0.74764	0.3759	N	0.08118	0	0.80722	D	1	B;B;B	0.20550	0.046;0.026;0.026	B;B;B	0.22152	0.038;0.038;0.038	T	0.67856	-0.5562	10	0.26408	T	0.33	-20.7639	19.9349	0.97133	0.0:1.0:0.0:0.0	.	441;392;437	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	N	437;441;392	ENSP00000369538:K437N;ENSP00000369475:K441N;ENSP00000369528:K392N	ENSP00000369475:K441N	K	-	3	2	GDI2	5848002	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	3.198000	0.51035	2.811000	0.96726	0.557000	0.71058	AAG		0.338	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		56	103	0	0	0	0	56	103				
PFKFB3	5209	broad.mit.edu	37	10	6263358	6263358	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:6263358G>C	ENST00000379775.4	+	9	1176	c.846G>C	c.(844-846)ctG>ctC	p.L282L	PFKFB3_ENST00000540253.1_Silent_p.L296L|PFKFB3_ENST00000360521.2_Silent_p.L282L|PFKFB3_ENST00000317350.4_Silent_p.L282L|PFKFB3_ENST00000379789.4_Silent_p.L262L|PFKFB3_ENST00000379785.1_Silent_p.L282L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Silent_p.L282L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	282	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCAGTGCTCTGAGCAAGTTCG	0.647																																						uc001ije.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(844-846)CTG>CTC		6-phosphofructo-2-kinase/fructose-2,							47.0	39.0	42.0					10																	6263358		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6263358G>C		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.846G>C	10.37:g.6263358G>C						PFKFB3_uc001ijd.2_Silent_p.L262L|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.L296L|PFKFB3_uc001ijf.2_Silent_p.L282L|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	p.L282L	NM_004566	NP_004557	Q16875	F263_HUMAN			9	1230	+			282			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.846G>C	CCDS7078.1																																																																																				0.647	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			14	14	0	0	0	0	14	14				
DHTKD1	55526	broad.mit.edu	37	10	12155015	12155015	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:12155015C>T	ENST00000263035.4	+	13	2333	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	757					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCCGGAACTTCAGAAAACCAC	0.478																																						uc001ild.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2269-2271)TTC>TTT		dehydrogenase E1 and transketolase domain							142.0	127.0	132.0					10																	12155015		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12155015C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2271C>T	10.37:g.12155015C>T							p.F757F	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		13	2370	+		Renal(717;0.228)	757					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2271C>T	CCDS7087.1																																																																																				0.478	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		39	84	0	0	0	0	39	84				
ABI1	10006	broad.mit.edu	37	10	27048155	27048155	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27048155G>A	ENST00000376142.2	-	9	985	c.914C>T	c.(913-915)tCa>tTa	p.S305L	ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376166.1_Missense_Mutation_p.S272L|ABI1_ENST00000376140.3_Missense_Mutation_p.S278L|ABI1_ENST00000346832.5_Missense_Mutation_p.S322L|ABI1_ENST00000355394.4_Missense_Mutation_p.S306L|ABI1_ENST00000376139.2_Missense_Mutation_p.S273L|ABI1_ENST00000359188.4_Missense_Mutation_p.S277L|ABI1_ENST00000376160.1_Missense_Mutation_p.S272L|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376170.4_Missense_Mutation_p.S277L|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376138.3_Missense_Mutation_p.S278L|ABI1_ENST00000376134.3_Missense_Mutation_p.S279L	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	305	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCAGGAGCTGAGCCCGGGGC	0.498																																						uc001isx.2		NA																	0				central_nervous_system(1)	1						c.(913-915)TCA>TTA		abl-interactor 1 isoform a							92.0	88.0	89.0					10																	27048155		2203	4300	6503	SO:0001583	missense	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27048155G>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.914C>T	10.37:g.27048155G>A	ENSP00000365312:p.Ser305Leu					ABI1_uc001ite.2_Missense_Mutation_p.S272L|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Missense_Mutation_p.S278L|ABI1_uc001ita.2_Missense_Mutation_p.S278L|ABI1_uc001isz.2_Missense_Mutation_p.S273L|ABI1_uc001itb.2_Missense_Mutation_p.S322L|ABI1_uc001itc.2_Missense_Mutation_p.S277L|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Missense_Mutation_p.S277L|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Missense_Mutation_p.S144L	p.S305L	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN			9	1081	-			305			Pro-rich.		A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	ENST00000376142.2	37	c.914C>T	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270045	0.59540	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T	0.44482	1.14;1.18;1.16;1.14;1.08;1.14;1.03;1.18;1.23;0.92;1.0	5.67	5.67	0.87782	.	0.173685	0.52532	D	0.000066	T	0.24967	0.0606	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.28820	0.224;0.031;0.094;0.0;0.087;0.0;0.0;0.014;0.077	B;B;B;B;B;B;B;B;B	0.26094	0.034;0.034;0.031;0.001;0.066;0.0;0.001;0.014;0.017	T	0.09662	-1.0664	10	0.31617	T	0.26	-2.8789	19.774	0.96385	0.0:0.0:1.0:0.0	.	144;272;302;277;322;278;273;278;305	B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;ABI1_HUMAN	L	278;277;272;272;305;277;273;306;322;279;278	ENSP00000365308:S278L;ENSP00000365340:S277L;ENSP00000365336:S272L;ENSP00000365330:S272L;ENSP00000365312:S305L;ENSP00000352114:S277L;ENSP00000365309:S273L;ENSP00000347555:S306L;ENSP00000279599:S322L;ENSP00000365304:S279L;ENSP00000365310:S278L	ENSP00000279599:S322L	S	-	2	0	ABI1	27088161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.679000	0.91253	0.591000	0.81541	TCA		0.498	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470		28	56	0	0	0	0	28	56				
ANKRD26	22852	broad.mit.edu	37	10	27326148	27326148	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:27326148C>G	ENST00000376087.4	-	23	2829	c.2664G>C	c.(2662-2664)gaG>gaC	p.E888D	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E445D|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E904D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	887					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CCATTTCAATCTCCTTTTGTT	0.328																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(2659-2661)GAG>GAC		ankyrin repeat domain 26							134.0	120.0	124.0					10																	27326148		1839	4076	5915	SO:0001583	missense	22852					centrosome		g.chr10:27326148C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2664G>C	10.37:g.27326148C>G	ENSP00000365255:p.Glu888Asp					ANKRD26_uc001itg.2_Missense_Mutation_p.E574D|ANKRD26_uc009xku.1_Missense_Mutation_p.E888D	p.E887D	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			23	2833	-			887					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.2661G>C	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811209	0.50527	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.36340	3.77;1.26;1.28	5.23	-1.25	0.09405	.	0.337835	0.22690	U	0.056824	T	0.42810	0.1219	L	0.51422	1.61	0.21325	N	0.999723	P;P;D	0.63880	0.703;0.578;0.993	B;B;D	0.70016	0.276;0.142;0.967	T	0.20338	-1.0278	10	0.49607	T	0.09	.	4.3069	0.10951	0.1548:0.4106:0.0:0.4346	.	888;887;904	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	D	445;888;904	ENSP00000365238:E445D;ENSP00000365255:E888D;ENSP00000405112:E904D	ENSP00000365238:E445D	E	-	3	2	ANKRD26	27366154	0.834000	0.29399	0.001000	0.08648	0.791000	0.44710	0.333000	0.19768	-0.037000	0.13646	0.585000	0.79938	GAG		0.328	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			34	84	0	0	0	0	34	84				
RET	5979	broad.mit.edu	37	10	43619153	43619153	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:43619153A>G	ENST00000355710.3	+	17	3068	c.2836A>G	c.(2836-2838)Acc>Gcc	p.T946A	RET_ENST00000340058.5_Missense_Mutation_p.T946A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	946	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M (in MEN2B and MTC; familial form).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGAGATCGTGACCCTAGGGGG	0.612		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		0				thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451						c.(2836-2838)ACC>GCC		ret proto-oncogene isoform a	Sunitinib(DB01268)						125.0	123.0	124.0					10																	43619153		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619153A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2836A>G	10.37:g.43619153A>G	ENSP00000347942:p.Thr946Ala					RET_uc001jak.1_Missense_Mutation_p.T946A|RET_uc010qez.1_Missense_Mutation_p.T692A	p.T946A	NM_020975	NP_066124	P07949	RET_HUMAN			17	3026	+		Ovarian(717;0.0423)	946		T -> M (in MEN2B and MTC; familial form).	Protein kinase.|Cytoplasmic (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2836A>G	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872792	0.72180	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90732	-2.72;-2.72	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047451	0.85682	D	0.000000	D	0.92593	0.7647	L	0.48935	1.535	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.988	P;P;P	0.60541	0.66;0.876;0.804	D	0.93471	0.6819	10	0.87932	D	0	.	15.3149	0.74065	1.0:0.0:0.0:0.0	.	692;946;946	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	A	946	ENSP00000347942:T946A;ENSP00000344798:T946A	ENSP00000344798:T946A	T	+	1	0	RET	42939159	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	9.339000	0.96797	2.026000	0.59711	0.460000	0.39030	ACC		0.612	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		73	104	0	0	0	0	73	104				
STOX1	219736	broad.mit.edu	37	10	70645407	70645407	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:70645407G>A	ENST00000298596.6	+	3	1938	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	STOX1_ENST00000421961.2_Missense_Mutation_p.E509K|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.E619K|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	619						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGTAATTCCTGAAGTCTTGAG	0.443																																						uc001jos.2		NA																	0				kidney(1)|skin(1)	2						c.(1855-1857)GAA>AAA		storkhead box 1 isoform a							146.0	134.0	138.0					10																	70645407		1933	4147	6080	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645407G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1855G>A	10.37:g.70645407G>A	ENSP00000298596:p.Glu619Lys					STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.E509K	p.E619K	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	1942	+			619					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1855G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	4.397	0.073391	0.08485	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.76709	-1.04;-1.04;-0.72	6.07	4.21	0.49690	.	0.938349	0.09145	N	0.842350	T	0.68632	0.3022	L	0.40543	1.245	0.09310	N	1	B	0.17852	0.024	B	0.12837	0.008	T	0.56872	-0.7907	10	0.42905	T	0.14	.	6.5947	0.22666	0.1937:0.0:0.6245:0.1818	.	619	Q6ZVD7	STOX1_HUMAN	K	619;619;509	ENSP00000382121:E619K;ENSP00000298596:E619K;ENSP00000394509:E509K	ENSP00000298596:E619K	E	+	1	0	STOX1	70315413	0.648000	0.27313	0.107000	0.21349	0.121000	0.20230	2.840000	0.48215	1.593000	0.50029	0.650000	0.86243	GAA		0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		27	80	0	0	0	0	27	80				
COL13A1	1305	broad.mit.edu	37	10	71690269	71690269	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:71690269G>C	ENST00000398978.3	+	29	2103	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	COL13A1_ENST00000356340.3_Missense_Mutation_p.E537D|COL13A1_ENST00000517713.1_Missense_Mutation_p.E515D|COL13A1_ENST00000520267.1_Missense_Mutation_p.E480D|COL13A1_ENST00000354547.3_Missense_Mutation_p.E515D|COL13A1_ENST00000398973.3_Missense_Mutation_p.E537D|COL13A1_ENST00000398972.3_Missense_Mutation_p.E537D|COL13A1_ENST00000357811.3_Missense_Mutation_p.E515D|COL13A1_ENST00000398966.3_Missense_Mutation_p.E515D|COL13A1_ENST00000398971.3_Missense_Mutation_p.E537D|COL13A1_ENST00000398969.3_Missense_Mutation_p.E480D|COL13A1_ENST00000522165.1_Missense_Mutation_p.E518D|COL13A1_ENST00000398968.3_Missense_Mutation_p.E518D|COL13A1_ENST00000398964.3_Missense_Mutation_p.E508D|COL13A1_ENST00000398974.3_Missense_Mutation_p.E525D|COL13A1_ENST00000520133.1_Missense_Mutation_p.E486D	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GCCCAGGAGAGAAGGGGGAAA	0.627																																						uc001jpr.1		NA																	0				ovary(1)	1						c.(1609-1611)GAG>GAC		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						50.0	63.0	59.0					10																	71690269		1994	4150	6144	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71690269G>C	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1611G>C	10.37:g.71690269G>C	ENSP00000381949:p.Glu537Asp					COL13A1_uc001jqj.1_Missense_Mutation_p.E537D|COL13A1_uc001jps.1_Missense_Mutation_p.E508D|COL13A1_uc001jpt.1_Missense_Mutation_p.E496D|COL13A1_uc001jpu.1_Missense_Mutation_p.E518D|COL13A1_uc001jpv.1_Missense_Mutation_p.E537D|COL13A1_uc001jpx.1_Missense_Mutation_p.E515D|COL13A1_uc001jpw.1_Missense_Mutation_p.E484D|COL13A1_uc001jpy.1_Missense_Mutation_p.E475D|COL13A1_uc001jpz.1_Missense_Mutation_p.E480D|COL13A1_uc001jqa.1_Missense_Mutation_p.E477D|COL13A1_uc001jqc.1_Missense_Mutation_p.E537D|COL13A1_uc001jqb.1_Missense_Mutation_p.E486D|COL13A1_uc001jql.2_Missense_Mutation_p.E537D|COL13A1_uc001jqd.1_Missense_Mutation_p.E525D|COL13A1_uc001jqe.1_Missense_Mutation_p.E520D|COL13A1_uc001jqf.1_Missense_Mutation_p.E518D|COL13A1_uc001jqg.1_Missense_Mutation_p.E515D|COL13A1_uc001jqh.1_Missense_Mutation_p.E537D|COL13A1_uc001jqi.1_Missense_Mutation_p.E537D|COL13A1_uc010qjf.1_Missense_Mutation_p.E327D	p.E537D	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			28	2147	+			537			Extracellular (Potential).|Triple-helical region 3 (COL3).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1611G>C	CCDS44419.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	2.725|2.725|2.725	-0.265772|-0.265772|-0.265772	0.05754|0.05754|0.05754	.|.|.	.|.|.	ENSG00000197467|ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019|ENST00000398975	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|D|.	0.93307|0.96651|.	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2|-4.08|.	3.3|3.3|3.3	-0.8|-0.8|-0.8	0.10897|0.10897|0.10897	.|.|.	0.083076|0.083076|.	0.45361|0.45361|.	D|D|.	0.000366|0.000366|.	T|T|T	0.39036|0.39036|0.39036	0.1063|0.1063|0.1063	N|N|N	0.21545|0.21545|0.21545	0.675|0.675|0.675	0.37298|0.37298|0.37298	D|D|D	0.908563|0.908563|0.908563	B;D;P;P;D;P;D;P;D;P;P;D;P;P;D;P;D;D;D|.|.	0.63046|.|.	0.378;0.979;0.928;0.928;0.992;0.942;0.992;0.863;0.979;0.882;0.942;0.974;0.928;0.942;0.99;0.928;0.99;0.992;0.974|.|.	B;D;P;P;D;P;D;B;D;B;P;D;P;P;D;P;D;D;D|.|.	0.76071|.|.	0.05;0.982;0.533;0.533;0.987;0.663;0.987;0.428;0.982;0.332;0.663;0.969;0.533;0.663;0.979;0.533;0.979;0.987;0.969|.|.	T|T|T	0.23119|0.23119|0.23119	-1.0197|-1.0197|-1.0197	10|8|5	0.33940|0.34782|.	T|T|.	0.23|0.22|.	-4.4154|-4.4154|-4.4154	9.6949|9.6949|9.6949	0.40152|0.40152|0.40152	0.601:0.0:0.399:0.0|0.601:0.0:0.399:0.0|0.601:0.0:0.399:0.0	.|.|.	480;537;537;537;537;515;518;537;525;537;486;515;515;546;537;518;515;508;537|.|.	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.|.	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.|.	D|Q|T	525;537;518;515;508;480;537;537;537;537;515;515;480;515;518;486|21|82	ENSP00000381946:E525D;ENSP00000381943:E537D;ENSP00000381940:E518D;ENSP00000381938:E515D;ENSP00000381936:E508D;ENSP00000381941:E480D;ENSP00000348695:E537D;ENSP00000381944:E537D;ENSP00000381945:E537D;ENSP00000381949:E537D;ENSP00000346553:E515D;ENSP00000350463:E515D;ENSP00000428057:E480D;ENSP00000430061:E515D;ENSP00000428342:E518D;ENSP00000430173:E486D|ENSP00000388774:E21Q|.	ENSP00000346553:E515D|ENSP00000388774:E21Q|.	E|E|R	+|+|+	3|1|2	2|0|0	COL13A1|COL13A1|COL13A1	71360275|71360275|71360275	0.367000|0.367000|0.367000	0.25023|0.25023|0.25023	0.986000|0.986000|0.986000	0.45419|0.45419|0.45419	0.323000|0.323000|0.323000	0.28346|0.28346|0.28346	-0.825000|-0.825000|-0.825000	0.04433|0.04433|0.04433	-0.430000|-0.430000|-0.430000	0.07318|0.07318|0.07318	-1.134000|-1.134000|-1.134000	0.01955|0.01955|0.01955	GAG|GAA|AGA		0.627	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		13	23	0	0	0	0	13	23				
PPP3CB	5532	broad.mit.edu	37	10	75230956	75230956	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75230956G>A	ENST00000360663.5	-	6	792	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PPP3CB_ENST00000394829.2_Silent_p.F227F|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000394822.2_Silent_p.F245F|PPP3CB_ENST00000342558.3_Silent_p.F227F|PPP3CB_ENST00000394828.2_Silent_p.F227F|PPP3CB_ENST00000545874.1_Silent_p.F141F			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	227	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTGGCTCTTTGAATCTATCTA	0.343																																						uc001jue.2		NA																	0				skin(1)	1						c.(679-681)TTC>TTT		protein phosphatase 3, catalytic subunit, beta							51.0	53.0	52.0					10																	75230956		2199	4299	6498	SO:0001819	synonymous_variant	5532							g.chr10:75230956G>A	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.681C>T	10.37:g.75230956G>A						PPP3CB_uc001juf.2_Silent_p.F227F|PPP3CB_uc001jug.2_Silent_p.F227F|PPP3CB_uc001jui.2_Silent_p.F245F|PPP3CB_uc001juh.2_Silent_p.F141F	p.F227F	NM_021132	NP_066955	P16298	PP2BB_HUMAN			6	816	-	Prostate(51;0.0119)		227			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	ENST00000360663.5	37	c.681C>T	CCDS7328.1																																																																																				0.343	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		22	53	0	0	0	0	22	53				
SEC24C	9632	broad.mit.edu	37	10	75525644	75525644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75525644G>T	ENST00000339365.2	+	11	1615	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Nonsense_Mutation_p.E366*|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Nonsense_Mutation_p.E485*|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	485					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGGCTCTTATGAATTCTTGGC	0.507																																						uc001juw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1453-1455)GAA>TAA		SEC24-related protein C							183.0	167.0	172.0					10																	75525644		2203	4300	6503	SO:0001587	stop_gained	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525644G>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1453G>T	10.37:g.75525644G>T	ENSP00000343405:p.Glu485*					SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Nonsense_Mutation_p.E343*|SEC24C_uc001jux.2_Nonsense_Mutation_p.E485*|SEC24C_uc010qko.1_Nonsense_Mutation_p.E366*|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron	p.E485*	NM_004922	NP_004913	P53992	SC24C_HUMAN			11	1632	+	Prostate(51;0.0112)		485					B4DZT4|Q8WV25	Nonsense_Mutation	SNP	ENST00000339365.2	37	c.1453G>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042461	0.97231	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6201	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	485;485;366	.	ENSP00000343405:E485X	E	+	1	0	SEC24C	75195650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAA		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			73	129	1	0	3.55e-40	3.96e-40	73	129				
AP3M1	26985	broad.mit.edu	37	10	75897965	75897965	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:75897965C>T	ENST00000355264.4	-	2	484	c.173G>A	c.(172-174)aGt>aAt	p.S58N	AP3M1_ENST00000487653.1_5'Flank|AP3M1_ENST00000372745.1_Missense_Mutation_p.S58N	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	58					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CCGGTAGATACTGATGAGGTA	0.428																																						uc001jwf.2		NA																	0					0						c.(172-174)AGT>AAT		adaptor-related protein complex 3, mu 1 subunit							160.0	137.0	145.0					10																	75897965		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75897965C>T	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.173G>A	10.37:g.75897965C>T	ENSP00000347408:p.Ser58Asn					AP3M1_uc001jwg.2_Missense_Mutation_p.S58N|AP3M1_uc001jwh.2_Missense_Mutation_p.S58N|AP3M1_uc010qla.1_Missense_Mutation_p.S58N	p.S58N	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN			2	603	-	Prostate(51;0.0112)		58					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.173G>A	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252056	0.39797	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.78003	-1.14;-1.14	5.82	5.82	0.92795	Longin-like (1);AP complex, mu/sigma subunit (1);	0.182108	0.64402	D	0.000018	T	0.72534	0.3472	L	0.37750	1.13	0.44024	D	0.996745	B;B	0.14805	0.005;0.011	B;B	0.17979	0.005;0.02	T	0.64643	-0.6359	10	0.33141	T	0.24	-8.3234	20.1086	0.97902	0.0:1.0:0.0:0.0	.	58;58	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	N	58	ENSP00000347408:S58N;ENSP00000361831:S58N	ENSP00000347408:S58N	S	-	2	0	AP3M1	75567971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.091000	0.50199	2.756000	0.94617	0.563000	0.77884	AGT		0.428	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			30	48	0	0	0	0	30	48				
CPEB3	22849	broad.mit.edu	37	10	93902855	93902855	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:93902855G>A	ENST00000265997.4	-	6	1556	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	CPEB3_ENST00000412050.4_Missense_Mutation_p.R448C	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	462	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CCAAACCTGCGAAAGCTGGCA	0.388																																						uc001khw.1		NA																	0					0						c.(1384-1386)CGC>TGC		cytoplasmic polyadenylation element binding							73.0	73.0	73.0					10																	93902855		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93902855G>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1384C>T	10.37:g.93902855G>A	ENSP00000265997:p.Arg462Cys					CPEB3_uc001khu.1_Missense_Mutation_p.R471C|CPEB3_uc001khv.1_Missense_Mutation_p.R448C|CPEB3_uc010qnn.1_Missense_Mutation_p.R448C	p.R462C	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN			6	1557	-		Colorectal(252;0.0869)	462			RRM 1.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1384C>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606760	0.87157	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.17691	2.26;2.26	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.33093	0.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.998	T	0.01626	-1.1309	10	0.52906	T	0.07	-10.4969	20.1823	0.98208	0.0:0.0:1.0:0.0	.	462;448;448	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	C	448;448;462	ENSP00000398310:R448C;ENSP00000265997:R462C	ENSP00000265997:R462C	R	-	1	0	CPEB3	93892835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.006000	0.88564	2.771000	0.95319	0.650000	0.86243	CGC		0.388	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		27	46	0	0	0	0	27	46				
RRP12	23223	broad.mit.edu	37	10	99120333	99120333	+	Missense_Mutation	SNP	C	C	T	rs116818150		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:99120333C>T	ENST00000370992.4	-	31	3721	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RRP12_ENST00000414986.1_Missense_Mutation_p.E1143K|RRP12_ENST00000315563.6_Missense_Mutation_p.E1104K|RRP12_ENST00000536831.1_Missense_Mutation_p.E922K|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1204						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCAGCTCCTCCTCCTCAGCC	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19274	0.0		0.0	False		,,,				2504	0.0					uc001knf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3610-3612)GAG>AAG		ribosomal RNA processing 12 homolog isoform 1		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	179.0	153.0	162.0		3427,3610	5.4	0.4	10	dbSNP_132	162	0,8600		0,0,4300	no	missense,missense	RRP12	NM_001145114.1,NM_015179.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	1143/1237,1204/1298	99120333	1,13005	2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99120333C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3610G>A	10.37:g.99120333C>T	ENSP00000360031:p.Glu1204Lys					RRP12_uc001kne.2_Missense_Mutation_p.E219K|RRP12_uc009xvl.2_Missense_Mutation_p.E321K|RRP12_uc009xvm.2_Missense_Mutation_p.E922K|RRP12_uc010qou.1_Missense_Mutation_p.E1143K|RRP12_uc009xvn.2_Missense_Mutation_p.E1104K	p.E1204K	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	31	3749	-		Colorectal(252;0.162)	1204					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3610G>A	CCDS7457.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.86	3.714062	0.68730	2.27E-4	0.0	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.30714	1.52;1.55;1.55;1.53	5.44	5.44	0.79542	.	0.269591	0.41194	D	0.000930	T	0.33235	0.0856	L	0.41710	1.295	0.34839	D	0.740514	P;B;P;B	0.48503	0.701;0.006;0.911;0.011	B;B;P;B	0.49999	0.309;0.016;0.628;0.013	T	0.17561	-1.0365	10	0.09590	T	0.72	-12.5374	15.9672	0.79984	0.0:1.0:0.0:0.0	.	1143;1104;922;1204	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	K	1204;1104;1143;922	ENSP00000360031:E1204K;ENSP00000324315:E1104K;ENSP00000414863:E1143K;ENSP00000446184:E922K	ENSP00000324315:E1104K	E	-	1	0	RRP12	99110323	0.960000	0.32886	0.438000	0.26821	0.530000	0.34684	4.032000	0.57274	2.532000	0.85374	0.462000	0.41574	GAG		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		35	55	0	0	0	0	35	55				
TAF5	6877	broad.mit.edu	37	10	105139422	105139422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:105139422G>T	ENST00000369839.3	+	4	1194	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	TAF5_ENST00000351396.4_Nonsense_Mutation_p.E391*	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	391					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGACGAGGATGAAGAGGGAGA	0.328																																						uc001kwv.2		NA																	0				ovary(2)	2						c.(1171-1173)GAA>TAA		TBP-associated factor 5							67.0	65.0	66.0					10																	105139422		2203	4300	6503	SO:0001587	stop_gained	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105139422G>T	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1171G>T	10.37:g.105139422G>T	ENSP00000358854:p.Glu391*					TAF5_uc010qqq.1_Nonsense_Mutation_p.E391*	p.E391*	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	4	1194	+		Colorectal(252;0.0747)|Breast(234;0.128)	391					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Nonsense_Mutation	SNP	ENST00000369839.3	37	c.1171G>T	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	36	5.914287	0.97099	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-19.8443	18.9332	0.92574	0.0:0.0:1.0:0.0	.	.	.	.	X	391	.	ENSP00000311024:E391X	E	+	1	0	TAF5	105129412	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.447000	0.97595	2.563000	0.86464	0.655000	0.94253	GAA		0.328	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			11	23	1	0	3.27e-08	3.48e-08	11	23				
INPP5F	22876	broad.mit.edu	37	10	121541174	121541174	+	Missense_Mutation	SNP	G	G	C	rs150684982		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:121541174G>C	ENST00000361976.2	+	3	372	c.206G>C	c.(205-207)cGg>cCg	p.R69P	INPP5F_ENST00000369083.3_Missense_Mutation_p.R69P|INPP5F_ENST00000369081.1_5'UTR	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATTCTAATTCGGCAGAAAGCA	0.423																																						uc001leo.2		NA																	0				ovary(2)	2						c.(205-207)CGG>CCG		inositol polyphosphate-5-phosphatase F							74.0	69.0	71.0					10																	121541174		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121541174G>C	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.206G>C	10.37:g.121541174G>C	ENSP00000354519:p.Arg69Pro					INPP5F_uc001len.3_Missense_Mutation_p.R69P	p.R69P	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	3	372	+		Lung NSC(174;0.109)|all_lung(145;0.142)	69					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.206G>C	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513085	0.85389	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.58060	0.36;0.36	5.96	5.06	0.68205	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68943	0.961;0.961	T	0.69807	-0.5045	10	0.46703	T	0.11	-13.4347	15.3789	0.74637	0.0669:0.0:0.9331:0.0	.	69;69	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	P	69	ENSP00000354519:R69P;ENSP00000358079:R69P	ENSP00000354519:R69P	R	+	2	0	INPP5F	121531164	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.091000	0.94151	1.517000	0.48917	0.655000	0.94253	CGG		0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		15	41	0	0	0	0	15	41				
JAKMIP3	282973	broad.mit.edu	37	10	133930719	133930719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr10:133930719G>A	ENST00000298622.4	+	2	412	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	92						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGCTGTGCGTGAGACGCTGCT	0.597																																						uc001lkx.3		NA																	0				breast(1)	1						c.(274-276)GAG>AAG		Janus kinase and microtubule interacting protein							49.0	59.0	55.0					10																	133930719		2191	4294	6485	SO:0001583	missense	282973							g.chr10:133930719G>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.274G>A	10.37:g.133930719G>A	ENSP00000298622:p.Glu92Lys						p.E92K	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	274	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.274G>A	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217934	0.95104	.	.	ENSG00000188385	ENST00000298622	T	0.38887	1.11	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.68952	2.095	0.53688	D	0.999971	D	0.71674	0.998	D	0.80764	0.994	T	0.63310	-0.6666	10	0.41790	T	0.15	-33.3405	17.4433	0.87572	0.0:0.0:1.0:0.0	.	92	Q5VZ66	JKIP3_HUMAN	K	92	ENSP00000298622:E92K	ENSP00000298622:E92K	E	+	1	0	JAKMIP3	133780709	1.000000	0.71417	0.960000	0.40013	0.975000	0.68041	9.120000	0.94369	2.345000	0.79718	0.485000	0.47835	GAG		0.597	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		14	36	0	0	0	0	14	36				
TALDO1	6888	broad.mit.edu	37	11	747535	747535	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:747535C>G	ENST00000319006.3	+	1	207	c.54C>G	c.(52-54)ctC>ctG	p.L18L	TALDO1_ENST00000528097.1_Silent_p.L18L			P37837	TALDO_HUMAN	transaldolase 1	18					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TGGACCAGCTCAAGCAGTTCA	0.736																																						uc001lqz.2		NA																	0					0						c.(52-54)CTC>CTG		transaldolase 1							21.0	19.0	20.0					11																	747535		2194	4290	6484	SO:0001819	synonymous_variant	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:747535C>G		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.54C>G	11.37:g.747535C>G						TALDO1_uc010qwl.1_Silent_p.L18L|TALDO1_uc001lra.2_Silent_p.L18L	p.L18L	NM_006755	NP_006746	P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	1	104	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	18					B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	c.54C>G	CCDS7712.1																																																																																				0.736	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		5	9	0	0	0	0	5	9				
ZNF214	7761	broad.mit.edu	37	11	7022289	7022289	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:7022289G>C	ENST00000278314.4	-	3	940	c.625C>G	c.(625-627)Cta>Gta	p.L209V	ZNF214_ENST00000536068.1_Missense_Mutation_p.L209V|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	209					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)		TCTCTCAGTAGGTCTTCTTGA	0.398																																					Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	0				skin(1)	1						c.(625-627)CTA>GTA		zinc finger protein 214							87.0	86.0	86.0					11																	7022289		2201	4293	6494	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7022289G>C	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.625C>G	11.37:g.7022289G>C	ENSP00000278314:p.Leu209Val					ZNF214_uc010ray.1_Missense_Mutation_p.L209V|ZNF214_uc009yfh.1_Missense_Mutation_p.L209V	p.L209V	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	928	-			209					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.625C>G	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.802626	0.00611	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.06849	3.25;3.25	4.28	2.38	0.29361	.	0.000000	0.34959	N	0.003555	T	0.10380	0.0254	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	P	0.54759	0.76	T	0.09400	-1.0676	10	0.52906	T	0.07	.	8.4474	0.32849	0.1955:0.0:0.8045:0.0	.	209	Q9UL59	ZN214_HUMAN	V	209	ENSP00000278314:L209V;ENSP00000445373:L209V	ENSP00000278314:L209V	L	-	1	2	ZNF214	6978865	0.000000	0.05858	0.026000	0.17262	0.005000	0.04900	-0.029000	0.12329	0.551000	0.29008	0.650000	0.86243	CTA		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			40	19	0	0	0	0	40	19				
USP47	55031	broad.mit.edu	37	11	11924275	11924275	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:11924275G>A	ENST00000399455.2	+	7	787	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.E135K|USP47_ENST00000527733.1_Missense_Mutation_p.E203K	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	223	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGAATTTGAAGAATCTGAAGA	0.259																																						uc001mjq.1		NA																	0				ovary(1)|skin(1)	2						c.(667-669)GAA>AAA		ubiquitin specific protease 47							69.0	63.0	65.0					11																	11924275		1779	4054	5833	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11924275G>A	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.667G>A	11.37:g.11924275G>A	ENSP00000382382:p.Glu223Lys					USP47_uc001mjr.2_Missense_Mutation_p.E135K|USP47_uc001mjs.2_Missense_Mutation_p.E203K	p.E223K	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	7	1430	+			223					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.667G>A		.	.	.	.	.	.	.	.	.	.	G	17.62	3.436012	0.62955	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.29655	1.56;1.56;1.56	5.43	5.43	0.79202	.	0.144736	0.64402	D	0.000009	T	0.31670	0.0804	N	0.13235	0.315	0.80722	D	1	P;P	0.48694	0.813;0.914	P;P	0.52710	0.707;0.674	T	0.04915	-1.0918	10	0.24483	T	0.36	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	203;135	E9PM46;Q96K76-2	.;.	K	135;203;223;223	ENSP00000339957:E135K;ENSP00000433146:E203K;ENSP00000382382:E223K	ENSP00000339957:E135K	E	+	1	0	USP47	11880851	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.534000	0.85438	0.555000	0.69702	GAA		0.259	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		22	11	0	0	0	0	22	11				
MRGPRX1	259249	broad.mit.edu	37	11	18956206	18956206	+	Silent	SNP	C	C	T	rs147529961		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:18956206C>T	ENST00000302797.3	-	1	350	c.126G>A	c.(124-126)ctG>ctA	p.L42L	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	42					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGTTTCCTGTCAGCCCGACAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		25877	0.0		0.001	False		,,,				2504	0.0					uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(124-126)CTG>CTA		MAS-related GPR, member X1		C		0,4388		0,0,2194	181.0	171.0	174.0		126	1.5	0.0	11	dbSNP_134	174	34,8538		1,32,4253	no	coding-synonymous	MRGPRX1	NM_147199.3		1,32,6447	TT,TC,CC		0.3966,0.0,0.2623		42/323	18956206	34,12926	2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956206C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.126G>A	11.37:g.18956206C>T							p.L42L	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	344	-			42			Helical; Name=1; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.126G>A	CCDS7846.1																																																																																				0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		54	108	0	0	0	0	54	108				
NELL1	4745	broad.mit.edu	37	11	21581825	21581825	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:21581825C>T	ENST00000357134.5	+	17	2029	c.1877C>T	c.(1876-1878)tCt>tTt	p.S626F	NELL1_ENST00000298925.5_Missense_Mutation_p.S654F|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000325319.5_Missense_Mutation_p.S569F|NELL1_ENST00000532434.1_Missense_Mutation_p.S579F	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	626	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			S -> C (in Ref. 7; AAB06946). {ECO:0000305}.	cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTCTGCCCCTCTGGGCCCTCC	0.537																																						uc001mqe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1876-1878)TCT>TTT		nel-like 1 isoform 1 precursor							110.0	96.0	101.0					11																	21581825		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21581825C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1877C>T	11.37:g.21581825C>T	ENSP00000349654:p.Ser626Phe					NELL1_uc001mqf.2_Missense_Mutation_p.S579F|NELL1_uc009yid.2_Missense_Mutation_p.S654F|NELL1_uc010rdo.1_Missense_Mutation_p.S569F|NELL1_uc010rdp.1_Missense_Mutation_p.S339F|NELL1_uc001mqh.2_Intron	p.S626F	NM_006157	NP_006148	Q92832	NELL1_HUMAN			17	2030	+			626	S -> C (in Ref. 7; AAB06946).		EGF-like 6; calcium-binding (Potential).		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1877C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057378	0.55325	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.9	4.98	0.66077	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.072564	0.56097	D	0.000024	D	0.89511	0.6736	L	0.43701	1.375	0.31294	N	0.689113	B;P;B;B	0.34562	0.402;0.457;0.323;0.28	B;B;B;B	0.40901	0.153;0.343;0.182;0.073	D	0.89507	0.3768	10	0.66056	D	0.02	-5.873	10.1516	0.42796	0.1343:0.7968:0.0:0.0689	.	569;654;579;626	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	F	654;626;569;579	ENSP00000298925:S654F;ENSP00000349654:S626F;ENSP00000317837:S569F;ENSP00000437170:S579F	ENSP00000298925:S654F	S	+	2	0	NELL1	21538401	0.005000	0.15991	1.000000	0.80357	0.987000	0.75469	1.431000	0.34925	2.808000	0.96608	0.650000	0.86243	TCT		0.537	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		29	24	0	0	0	0	29	24				
QSER1	79832	broad.mit.edu	37	11	32953947	32953947	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:32953947G>C	ENST00000399302.2	+	4	1091	c.756G>C	c.(754-756)aaG>aaC	p.K252N	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	252	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TACAACAGAAGACCTCCCAGG	0.438																																						uc001mty.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(754-756)AAG>AAC		glutamine and serine rich 1							80.0	75.0	76.0					11																	32953947		1905	4113	6018	SO:0001583	missense	79832							g.chr11:32953947G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.756G>C	11.37:g.32953947G>C	ENSP00000382241:p.Lys252Asn					QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	p.K252N	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	1023	+	Breast(20;0.158)		252			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.756G>C	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	7.343	0.621359	0.14193	.	.	ENSG00000060749	ENST00000399302	T	0.50548	0.74	4.98	4.06	0.47325	.	0.000000	0.42964	U	0.000622	T	0.34483	0.0899	L	0.29908	0.895	0.80722	D	1	P	0.42692	0.787	B	0.36186	0.219	T	0.29181	-1.0020	10	0.66056	D	0.02	.	13.1705	0.59595	0.0771:0.0:0.9229:0.0	.	252	Q2KHR3	QSER1_HUMAN	N	252	ENSP00000382241:K252N	ENSP00000382241:K252N	K	+	3	2	QSER1	32910523	1.000000	0.71417	0.648000	0.29521	0.090000	0.18270	3.763000	0.55257	1.225000	0.43566	0.655000	0.94253	AAG		0.438	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		30	46	0	0	0	0	30	46				
HIPK3	10114	broad.mit.edu	37	11	33308711	33308711	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:33308711G>A	ENST00000303296.4	+	2	1056	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	HIPK3_ENST00000456517.1_Missense_Mutation_p.E251K|HIPK3_ENST00000525975.1_Missense_Mutation_p.E251K|HIPK3_ENST00000379016.3_Missense_Mutation_p.E251K	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCTCAGTACTGAAAATGCTGA	0.363																																						uc001mul.1		NA																	0				large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						c.(751-753)GAA>AAA		homeodomain interacting protein kinase 3 isoform							72.0	75.0	74.0					11																	33308711		2202	4297	6499	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308711G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.751G>A	11.37:g.33308711G>A	ENSP00000304226:p.Glu251Lys					HIPK3_uc001mum.1_Missense_Mutation_p.E251K|HIPK3_uc009yjv.1_Missense_Mutation_p.E251K	p.E251K	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN			2	1021	+			251			Protein kinase.		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.751G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298158	0.81025	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.60170	0.2248	N	0.16368	0.405	0.80722	D	1	B;P	0.37466	0.298;0.596	B;P	0.46629	0.302;0.522	T	0.64901	-0.6298	10	0.87932	D	0	.	19.7253	0.96161	0.0:0.0:1.0:0.0	.	251;251	Q9H422-2;Q9H422	.;HIPK3_HUMAN	K	251	ENSP00000431710:E251K;ENSP00000304226:E251K;ENSP00000368301:E251K;ENSP00000398241:E251K	ENSP00000304226:E251K	E	+	1	0	HIPK3	33265287	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	9.869000	0.99810	2.673000	0.90976	0.585000	0.79938	GAA		0.363	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		24	30	0	0	0	0	24	30				
OR5D14	219436	broad.mit.edu	37	11	55563457	55563457	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55563457C>T	ENST00000335605.1	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CACAGAGGCTCTGTGCCCTGC	0.517																																						uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(424-426)CTC>CTT		olfactory receptor, family 5, subfamily D,							111.0	102.0	105.0					11																	55563457		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563457C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.426C>T	11.37:g.55563457C>T							p.L142L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	426	+		all_epithelial(135;0.196)	142			Helical; Name=4; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.426C>T	CCDS31508.1																																																																																				0.517	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		32	50	0	0	0	0	32	50				
OR8I2	120586	broad.mit.edu	37	11	55860932	55860932	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:55860932G>A	ENST00000302124.2	+	1	180	c.149G>A	c.(148-150)aGa>aAa	p.R50K		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACGTTAATCAGAATGGATTCT	0.373																																						uc010rix.1		NA																	0				breast(1)	1						c.(148-150)AGA>AAA		olfactory receptor, family 8, subfamily I,							252.0	241.0	245.0					11																	55860932		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860932G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.149G>A	11.37:g.55860932G>A	ENSP00000303864:p.Arg50Lys						p.R50K	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	149	+	Esophageal squamous(21;0.00693)		50			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.149G>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	G	2.981	-0.210250	0.06140	.	.	ENSG00000172154	ENST00000302124	T	0.01076	5.37	4.5	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.196377	0.25756	U	0.028515	T	0.00845	0.0028	N	0.25825	0.765	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	T	0.49062	-0.8978	10	0.15066	T	0.55	-4.0176	4.824	0.13407	0.1354:0.0:0.5157:0.3489	.	50	Q8N0Y5	OR8I2_HUMAN	K	50	ENSP00000303864:R50K	ENSP00000303864:R50K	R	+	2	0	OR8I2	55617508	0.000000	0.05858	0.172000	0.22920	0.016000	0.09150	-0.193000	0.09573	0.979000	0.38497	0.440000	0.28878	AGA		0.373	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		95	155	0	0	0	0	95	155				
LRRC55	219527	broad.mit.edu	37	11	56950027	56950027	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:56950027C>T	ENST00000497933.1	+	1	807	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	190	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGGCCTTCCTCAGCCTGGAGG	0.652																																						uc001njl.1		NA																	0					0						c.(658-660)CTC>CTT		leucine rich repeat containing 55							64.0	64.0	64.0					11																	56950027		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56950027C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.660C>T	11.37:g.56950027C>T							p.L220L	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			1	807	+			190			LRR 5.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.660C>T	CCDS31539.1																																																																																				0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		34	49	0	0	0	0	34	49				
BTBD18	643376	broad.mit.edu	37	11	57509396	57509396	+	IGR	SNP	G	G	C	rs371383507		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:57509396G>C	ENST00000436147.3	-	0	2947				TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_Missense_Mutation_p.E80Q|C11orf31_ENST00000388857.4_Missense_Mutation_p.E80Q|RP11-691N7.6_ENST00000531074.1_5'Flank			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18											endometrium(3)|kidney(1)	4						GGGCAGCTTCGAGGTGACGCT	0.677																																						uc010rjx.1		NA																	0					0						c.(238-240)GAG>CAG		selenoprotein H							10.0	12.0	11.0					11																	57509396		1925	4108	6033	SO:0001628	intergenic_variant	280636				cell redox homeostasis		selenium binding	g.chr11:57509396G>C		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203		11.37:g.57509396G>C						CTNND1_uc001nlf.1_Intron	p.E80Q	NM_170746	NP_734467	Q8IZQ5	SELH_HUMAN			3	584	+			80						Missense_Mutation	SNP	ENST00000436147.3	37	c.238G>C	CCDS44603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943123|4.943123	0.92526|0.92526	.|.	.|.	ENSG00000211450|ENSG00000211450	ENST00000534355;ENST00000388857|ENST00000528798	T;T|.	0.55413|.	0.52;0.52|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Thioredoxin-like fold (2);|.	0.000000|.	0.42821|.	D|.	0.000654|.	T|T	0.79329|0.79329	0.4427|0.4427	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80638|0.80638	-0.1293|-0.1293	10|5	0.72032|.	D|.	0.01|.	-33.4268|-33.4268	16.2647|16.2647	0.82571|0.82571	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	80|.	Q8IZQ5|.	SELH_HUMAN|.	Q|P	80|51	ENSP00000434511:E80Q;ENSP00000373509:E80Q|.	ENSP00000373509:E80Q|.	E|R	+|+	1|2	0|0	C11orf31|C11orf31	57265972|57265972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.427000|4.427000	0.59888|0.59888	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.677	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393718.2	NM_001145101		5	6	0	0	0	0	5	6				
OR5B17	219965	broad.mit.edu	37	11	58126450	58126450	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58126450G>A	ENST00000357377.3	-	1	92	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGTAGATGAGGGTAAACA	0.443																																						uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(91-93)CTC>CTT		olfactory receptor, family 5, subfamily B,							91.0	91.0	91.0					11																	58126450		2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126450G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.93C>T	11.37:g.58126450G>A							p.L31L	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	93	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	31			Helical; Name=1; (Potential).		Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.93C>T	CCDS31548.1																																																																																				0.443	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		60	89	0	0	0	0	60	89				
FAM111A	63901	broad.mit.edu	37	11	58920182	58920182	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:58920182G>T	ENST00000528737.1	+	5	3859	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	FAM111A_ENST00000420244.1_Silent_p.V347V|FAM111A_ENST00000533703.1_Silent_p.V347V|FAM111A_ENST00000361723.3_Silent_p.V347V|FAM111A_ENST00000531147.1_Silent_p.V347V			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	347	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTAAAGTAGTGAAACTTCTTG	0.348																																						uc010rkp.1		NA																	0				ovary(3)	3						c.(1039-1041)GTG>GTT		hypothetical protein LOC63901							72.0	76.0	75.0					11																	58920182		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920182G>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1041G>T	11.37:g.58920182G>T						FAM111A_uc010rkq.1_Silent_p.V347V|FAM111A_uc010rkr.1_Silent_p.V347V|FAM111A_uc001nno.2_Silent_p.V347V|FAM111A_uc001nnp.2_Silent_p.V347V|FAM111A_uc001nnq.2_Silent_p.V347V	p.V347V	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	1268	+		all_epithelial(135;0.139)	347					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.1041G>T	CCDS7973.1																																																																																				0.348	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		34	53	1	0	4.34e-12	4.7e-12	34	53				
SDHAF2	54949	broad.mit.edu	37	11	61205277	61205277	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61205277G>A	ENST00000543265.1	+	2	220	c.217G>A	c.(217-219)Gag>Aag	p.E73K	SDHAF2_ENST00000537782.1_Missense_Mutation_p.E73K|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.E61K|SDHAF2_ENST00000301761.2_Missense_Mutation_p.E73K|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000534878.1_Missense_Mutation_p.E73K					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						CCTGCTCTATGAGAGCAGAAA	0.458																																						uc001nrt.2		NA																	0				ovary(2)	2						c.(217-219)GAG>AAG		succinate dehydrogenase complex assembly factor							84.0	94.0	91.0					11																	61205277		2202	4299	6501	SO:0001583	missense	54949	Familial_Paragangliomas			mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205277G>A	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000543265.1:c.217G>A	11.37:g.61205277G>A	ENSP00000443660:p.Glu73Lys						p.E73K	NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN			2	239	+			73						Missense_Mutation	SNP	ENST00000543265.1	37	c.217G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.051152	0.97236	.	.	ENSG00000256591;ENSG00000167985;ENSG00000167985	ENST00000541135;ENST00000301761;ENST00000543265	T;T;T	0.76316	-1.01;-1.01;-1.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	L	0.34521	1.04	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	T	0.81560	-0.0877	10	0.52906	T	0.07	-19.808	19.6509	0.95805	0.0:0.0:1.0:0.0	.	73	Q9NX18	SDHF2_HUMAN	K	73	ENSP00000443130:E73K;ENSP00000301761:E73K;ENSP00000443660:E73K	ENSP00000440939:E73K	E	+	1	0	SDHAF2;RP11-286N22.8	60961853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.450000	0.90340	2.941000	0.99782	0.655000	0.94253	GAG		0.458	SDHAF2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398484.1	NM_017841		38	77	0	0	0	0	38	77				
MYRF	745	broad.mit.edu	37	11	61543821	61543821	+	Silent	SNP	G	G	A	rs371686409		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:61543821G>A	ENST00000278836.5	+	10	1512	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000327797.1_Silent_p.T97T|MYRF_ENST00000265460.5_Silent_p.T463T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	472					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGCAGGTCACGAAGGTGACTG	0.657											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nsc.1		NA																	0				breast(1)	1						c.(1414-1416)ACG>ACA		myelin gene regulatory factor isoform 2							25.0	26.0	26.0					11																	61543821		2202	4298	6500	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61543821G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1416G>A	11.37:g.61543821G>A			OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	C11orf9_uc001nse.1_Silent_p.T463T|C11orf9_uc010rll.1_5'Flank	p.T472T	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			10	1512	+			472			NDT80.		O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.1416G>A	CCDS44622.1																																																																																				0.657	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		7	10	0	0	0	0	7	10				
MTA2	9219	broad.mit.edu	37	11	62365499	62365499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365499C>A	ENST00000278823.2	-	6	876	c.487G>T	c.(487-489)Gag>Tag	p.E163*	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	163	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TGCTTACCCTCTACTAGGCGA	0.498																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(487-489)GAG>TAG		metastasis-associated protein 2							154.0	149.0	151.0					11																	62365499		2202	4299	6501	SO:0001587	stop_gained	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62365499C>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.487G>T	11.37:g.62365499C>A	ENSP00000278823:p.Glu163*					MTA2_uc010rlx.1_5'UTR	p.E163*	NM_004739	NP_004730	O94776	MTA2_HUMAN			6	868	-			163			ELM2.		Q68DB1|Q9UQB5	Nonsense_Mutation	SNP	ENST00000278823.2	37	c.487G>T	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.866022	0.98534	.	.	ENSG00000149480	ENST00000278823	.	.	.	5.73	4.82	0.62117	.	0.151813	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	12.2727	0.54716	0.0:0.9181:0.0:0.0819	.	.	.	.	X	163	.	ENSP00000278823:E163X	E	-	1	0	MTA2	62122075	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.045000	0.71020	1.432000	0.47375	0.655000	0.94253	GAG		0.498	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		58	155	1	0	7.06e-25	7.85e-25	58	155				
MTA2	9219	broad.mit.edu	37	11	62365820	62365820	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62365820C>G	ENST00000278823.2	-	5	740	c.351G>C	c.(349-351)ttG>ttC	p.L117F	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	117	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTACTGGCTCAAGATATCTG	0.517																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(349-351)TTG>TTC		metastasis-associated protein 2							343.0	372.0	362.0					11																	62365820		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62365820C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.351G>C	11.37:g.62365820C>G	ENSP00000278823:p.Leu117Phe					MTA2_uc010rlx.1_5'UTR	p.L117F	NM_004739	NP_004730	O94776	MTA2_HUMAN			5	732	-			117			BAH.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.351G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662197	0.67700	.	.	ENSG00000149480	ENST00000278823	D	0.86562	-2.14	5.73	3.85	0.44370	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	L	0.45137	1.4	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.86099	0.1555	10	0.42905	T	0.14	-9.0524	7.3952	0.26931	0.0:0.7322:0.0:0.2678	.	117	O94776	MTA2_HUMAN	F	117	ENSP00000278823:L117F	ENSP00000278823:L117F	L	-	3	2	MTA2	62122396	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.695000	0.25527	0.765000	0.33221	0.655000	0.94253	TTG		0.517	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		181	348	0	0	0	0	181	348				
STX5	6811	broad.mit.edu	37	11	62575026	62575026	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:62575026G>T	ENST00000294179.3	-	11	1136	c.983C>A	c.(982-984)tCt>tAt	p.S328Y	STX5_ENST00000377897.4_3'UTR|NXF1_ENST00000531709.2_5'Flank|STX5_ENST00000541317.1_Missense_Mutation_p.S232Y|NXF1_ENST00000531131.1_5'Flank|RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000439713.2_5'Flank|NXF1_ENST00000532297.1_5'Flank|STX5_ENST00000394690.1_Missense_Mutation_p.S274Y|NXF1_ENST00000294172.2_5'Flank	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	328					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						GGAGGTGACAGACTGGAAGTA	0.532																																						uc001nvh.2		NA																	0				ovary(1)|breast(1)	2						c.(982-984)TCT>TAT		syntaxin 5							168.0	141.0	150.0					11																	62575026		2201	4299	6500	SO:0001583	missense	6811				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity	g.chr11:62575026G>T	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.983C>A	11.37:g.62575026G>T	ENSP00000294179:p.Ser328Tyr					NXF1_uc001nvf.1_5'Flank|NXF1_uc001nvg.1_5'Flank|NXF1_uc009yog.1_5'Flank|NXF1_uc010rmh.1_5'Flank|STX5_uc010rmi.1_Missense_Mutation_p.S232Y|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.S274Y|STX5_uc010rmj.1_3'UTR|STX5_uc001nvj.2_Missense_Mutation_p.S143Y	p.S328Y	NM_003164	NP_003155	Q13190	STX5_HUMAN			11	1137	-			328			Cytoplasmic (Potential).		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	c.983C>A	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607464	0.87157	.	.	ENSG00000162236	ENST00000294179;ENST00000394690;ENST00000541317	T;T	0.48522	1.38;0.81	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69394	-0.5157	10	0.17832	T	0.49	-11.4277	16.3876	0.83521	0.0:0.0:1.0:0.0	.	328	Q13190	STX5_HUMAN	Y	328;274;232	ENSP00000294179:S328Y;ENSP00000378182:S274Y	ENSP00000294179:S328Y	S	-	2	0	STX5	62331602	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	9.457000	0.97630	2.561000	0.86390	0.462000	0.41574	TCT		0.532	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164		14	24	1	0	7.93e-07	8.34e-07	14	24				
RTN3	10313	broad.mit.edu	37	11	63487851	63487851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:63487851C>A	ENST00000377819.5	+	3	2031	c.1877C>A	c.(1876-1878)tCa>tAa	p.S626*	RTN3_ENST00000339997.4_Nonsense_Mutation_p.S607*|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Nonsense_Mutation_p.S514*|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	626					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACAGAATTCTCATTAAATGTG	0.388																																						uc001nxq.2		NA																	0				ovary(1)	1						c.(1876-1878)TCA>TAA		reticulon 3 isoform b							66.0	71.0	69.0					11																	63487851		2201	4298	6499	SO:0001587	stop_gained	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487851C>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1877C>A	11.37:g.63487851C>A	ENSP00000367050:p.Ser626*					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Nonsense_Mutation_p.S607*|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Nonsense_Mutation_p.S514*|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.S626*	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	2064	+			626					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Nonsense_Mutation	SNP	ENST00000377819.5	37	c.1877C>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	36	5.954429	0.97139	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	.	.	.	4.7	3.78	0.43462	.	0.480675	0.13467	N	0.385672	.	.	.	.	.	.	0.24821	N	0.992587	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2465	7.8593	0.29501	0.0:0.8907:0.0:0.1093	.	.	.	.	X	626;607;514	.	ENSP00000344106:S607X	S	+	2	0	RTN3	63244427	0.002000	0.14202	0.074000	0.20217	0.766000	0.43426	0.596000	0.24044	2.554000	0.86153	0.561000	0.74099	TCA		0.388	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		40	62	1	0	5.59e-11	6.02e-11	40	62				
CDC42BPG	55561	broad.mit.edu	37	11	64603995	64603995	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64603995C>G	ENST00000342711.5	-	12	1391	c.1392G>C	c.(1390-1392)ctG>ctC	p.L464L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCTTGTCCCTCAGCATCTCTG	0.637											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obs.3		NA																	0				lung(3)|central_nervous_system(1)	4						c.(1390-1392)CTG>CTC		CDC42 binding protein kinase gamma (DMPK-like)							76.0	66.0	69.0					11																	64603995		2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64603995C>G	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1392G>C	11.37:g.64603995C>G			OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077		p.L464L	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			12	1392	-			464			Potential.			Silent	SNP	ENST00000342711.5	37	c.1392G>C	CCDS31601.1																																																																																				0.637	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		22	38	0	0	0	0	22	38				
ATG2A	23130	broad.mit.edu	37	11	64662529	64662529	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:64662529C>G	ENST00000377264.3	-	41	5845	c.5733G>C	c.(5731-5733)ctG>ctC	p.L1911L	ATG2A_ENST00000421419.2_Silent_p.L1913L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1911					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGCCCCCGAGCAGGCTGGACG	0.706																																						uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5731-5733)CTG>CTC		autophagy related 2A							61.0	59.0	60.0					11																	64662529		2201	4296	6497	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64662529C>G		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5733G>C	11.37:g.64662529C>G						uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Silent_p.L676L	p.L1911L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			41	5848	-			1911					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.5733G>C	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	1.692	-0.503821	0.04261	.	.	ENSG00000110046	ENST00000418259	.	.	.	3.99	-0.383	0.12477	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	.	3.4482	0.07488	0.2975:0.4697:0.1448:0.088	.	.	.	.	P	1715	.	.	A	-	1	0	ATG2A	64419105	0.948000	0.32251	0.673000	0.29887	0.215000	0.24574	0.098000	0.15189	-0.159000	0.11021	0.561000	0.74099	GCT		0.706	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		23	47	0	0	0	0	23	47				
TBC1D10C	374403	broad.mit.edu	37	11	67177168	67177168	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177168C>G	ENST00000542590.1	+	9	1298	c.1284C>G	c.(1282-1284)atC>atG	p.I428M	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.I428M|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	428	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCCCCCATCGAGGGGCCCC	0.682																																						uc001ola.2		NA																	0					0						c.(1282-1284)ATC>ATG		TBC1 domain family, member 10C							9.0	14.0	12.0					11																	67177168		1904	3942	5846	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67177168C>G	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1284C>G	11.37:g.67177168C>G	ENSP00000443654:p.Ile428Met					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	p.I428M	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1313	+			428			Interaction with calcineurin.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.1284C>G	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	C	2.601	-0.292983	0.05568	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.08370	3.1;3.1	4.91	-9.82	0.00484	.	1.110940	0.06930	N	0.810865	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42732	-0.9434	10	0.46703	T	0.11	.	5.2297	0.15414	0.0799:0.1309:0.2781:0.5111	.	428	Q8IV04	TB10C_HUMAN	M	428	ENSP00000310193:I428M;ENSP00000443654:I428M	ENSP00000310193:I428M	I	+	3	3	TBC1D10C	66933744	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-5.671000	0.00105	-3.424000	0.00166	-0.391000	0.06502	ATC		0.682	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		11	25	0	0	0	0	11	25				
TBC1D10C	374403	broad.mit.edu	37	11	67177203	67177203	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:67177203C>G	ENST00000542590.1	+	9	1333	c.1319C>G	c.(1318-1320)tCc>tGc	p.S440C	TBC1D10C_ENST00000312390.5_Missense_Mutation_p.S440C|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	440	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCACCTCCTTCCTGGAC	0.657																																						uc001ola.2		NA																	0					0						c.(1318-1320)TCC>TGC		TBC1 domain family, member 10C							13.0	17.0	16.0					11																	67177203		1913	4000	5913	SO:0001583	missense	374403					intracellular	Rab GTPase activator activity	g.chr11:67177203C>G	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1319C>G	11.37:g.67177203C>G	ENSP00000443654:p.Ser440Cys					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	p.S440C	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1348	+			440			Interaction with calcineurin.		G3V1D6	Missense_Mutation	SNP	ENST00000542590.1	37	c.1319C>G	CCDS8162.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848773	0.71603	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.09163	3.01;3.01	4.67	4.67	0.58626	.	0.000000	0.45867	D	0.000324	T	0.19127	0.0459	L	0.44542	1.39	0.33153	D	0.545927	D	0.69078	0.997	P	0.56042	0.79	T	0.07809	-1.0753	10	0.66056	D	0.02	.	12.9392	0.58333	0.0:1.0:0.0:0.0	.	440	Q8IV04	TB10C_HUMAN	C	440	ENSP00000310193:S440C;ENSP00000443654:S440C	ENSP00000310193:S440C	S	+	2	0	TBC1D10C	66933779	0.724000	0.28038	0.995000	0.50966	0.856000	0.48823	3.798000	0.55522	2.448000	0.82819	0.455000	0.32223	TCC		0.657	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		19	22	0	0	0	0	19	22				
GAL	51083	broad.mit.edu	37	11	68456340	68456340	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68456340G>C	ENST00000265643.3	+	5	505	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	83					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		GTCCATACCTGAAAACAATAT	0.418																																						uc001oob.2		NA																	0					0						c.(247-249)GAA>CAA		galanin preproprotein							182.0	154.0	163.0					11																	68456340		2200	4294	6494	SO:0001583	missense	51083				growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity	g.chr11:68456340G>C	L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.247G>C	11.37:g.68456340G>C	ENSP00000265643:p.Glu83Gln						p.E83Q	NM_015973	NP_057057	P22466	GALA_HUMAN	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)	5	465	+	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	83					Q14413	Missense_Mutation	SNP	ENST00000265643.3	37	c.247G>C	CCDS8183.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637105	0.47049	.	.	ENSG00000069482	ENST00000265643	T	0.51574	0.7	3.73	2.79	0.32731	Galanin message associated peptide (GMAP) (2);	0.244481	0.39083	N	0.001465	T	0.54711	0.1875	L	0.59436	1.845	0.09310	N	1	D	0.59767	0.986	P	0.57548	0.823	T	0.45804	-0.9236	10	0.72032	D	0.01	-37.545	8.5449	0.33415	0.0:0.0:0.7694:0.2306	.	83	P22466	GALA_HUMAN	Q	83	ENSP00000265643:E83Q	ENSP00000265643:E83Q	E	+	1	0	GAL	68212916	0.468000	0.25839	0.002000	0.10522	0.003000	0.03518	1.634000	0.37123	0.874000	0.35823	0.655000	0.94253	GAA		0.418	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396843.2	NM_001479		5	28	0	0	0	0	5	28				
CPT1A	1374	broad.mit.edu	37	11	68542817	68542817	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:68542817G>A	ENST00000265641.5	-	13	1696	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	CPT1A_ENST00000540367.1_Silent_p.Y514Y|CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000539743.1_Silent_p.Y514Y|CPT1A_ENST00000376618.2_Silent_p.Y514Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	514					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GCCTGGTGGGGTACGGAATGT	0.502																																						uc001oog.3		NA																	0				skin(2)	2						c.(1540-1542)TAC>TAT		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						161.0	142.0	149.0					11																	68542817		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68542817G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1542C>T	11.37:g.68542817G>A						CPT1A_uc001oof.3_Silent_p.Y514Y|CPT1A_uc009ysj.2_Intron	p.Y514Y	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		13	1712	-	Esophageal squamous(3;3.28e-14)		514			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1542C>T	CCDS8185.1																																																																																				0.502	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		44	75	0	0	0	0	44	75				
FADD	8772	broad.mit.edu	37	11	70049837	70049837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:70049837C>T	ENST00000301838.4	+	1	569	c.272C>T	c.(271-273)gCg>gTg	p.A91V	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	91					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			gccggggccgcgcctggggaa	0.791																																						uc001opm.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(271-273)GCG>GTG		Fas-associated via death domain							5.0	6.0	6.0					11																	70049837		974	2215	3189	SO:0001583	missense	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70049837C>T	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.272C>T	11.37:g.70049837C>T	ENSP00000301838:p.Ala91Val						p.A91V	NM_003824	NP_003815	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		1	569	+	Esophageal squamous(2;1.19e-45)		91					Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	c.272C>T	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612919	0.28712	.	.	ENSG00000168040	ENST00000301838	D	0.82619	-1.63	3.72	-1.3	0.09259	Death (1);DEATH-like (2);	1.392810	0.04791	N	0.431714	T	0.69424	0.3109	L	0.48642	1.525	0.09310	N	1	P	0.42123	0.771	B	0.17979	0.02	T	0.57100	-0.7869	10	0.17369	T	0.5	-3.6591	8.8462	0.35172	0.148:0.4148:0.4372:0.0	.	91	Q13158	FADD_HUMAN	V	91	ENSP00000301838:A91V	ENSP00000301838:A91V	A	+	2	0	FADD	69727485	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.531000	0.06171	-0.011000	0.14247	0.491000	0.48974	GCG		0.791	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		3	12	0	0	0	0	3	12				
PHOX2A	401	broad.mit.edu	37	11	71952253	71952253	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:71952253C>T	ENST00000298231.5	-	2	469	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	100					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TTGAGCTGCGCGCTGGTGAAC	0.637																																						uc001osh.3		NA																	0					0						c.(298-300)GCG>ACG		paired-like homeobox 2a							61.0	52.0	55.0					11																	71952253		2200	4293	6493	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71952253C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.298G>A	11.37:g.71952253C>T	ENSP00000298231:p.Ala100Thr						p.A100T	NM_005169	NP_005160	O14813	PHX2A_HUMAN			2	470	-			100			Homeobox.		A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.298G>A	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	N	26.6	4.753090	0.89753	.	.	ENSG00000165462	ENST00000298231	D	0.96104	-3.91	4.64	3.66	0.41972	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.315660	0.23090	N	0.052043	D	0.94637	0.8271	L	0.37697	1.125	0.40182	D	0.977305	D	0.67145	0.996	P	0.61070	0.883	D	0.93149	0.6548	10	0.41790	T	0.15	.	9.7491	0.40464	0.3501:0.6499:0.0:0.0	.	100	O14813	PHX2A_HUMAN	T	100	ENSP00000298231:A100T	ENSP00000298231:A100T	A	-	1	0	PHOX2A	71629901	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	0.708000	0.25719	2.410000	0.81850	0.456000	0.33151	GCG		0.637	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		15	23	0	0	0	0	15	23				
RELT	84957	broad.mit.edu	37	11	73101849	73101849	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:73101849C>G	ENST00000064780.2	+	4	431	c.170C>G	c.(169-171)tCa>tGa	p.S57*	RELT_ENST00000393580.2_Nonsense_Mutation_p.S57*	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	57						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCACCTTCTCAGCTGCATGG	0.647																																						uc001otv.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(169-171)TCA>TGA		RELT tumor necrosis factor receptor precursor							40.0	44.0	42.0					11																	73101849		2199	4293	6492	SO:0001587	stop_gained	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101849C>G	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.170C>G	11.37:g.73101849C>G	ENSP00000064780:p.Ser57*					RELT_uc001otw.2_Nonsense_Mutation_p.S57*|RELT_uc009yto.1_5'UTR|RELT_uc001otx.2_5'Flank	p.S57*	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			4	335	+			57			TNFR-Cys.|Extracellular (Potential).		Q86V34|Q96JU1|Q9BUX7	Nonsense_Mutation	SNP	ENST00000064780.2	37	c.170C>G	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.681230	0.96774	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	.	.	.	5.31	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.681	12.3732	0.55265	0.0:0.8304:0.1696:0.0	.	.	.	.	X	57	.	ENSP00000064780:S57X	S	+	2	0	RELT	72779497	0.998000	0.40836	0.850000	0.33497	0.880000	0.50808	4.262000	0.58847	1.364000	0.46038	0.638000	0.83543	TCA		0.647	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		22	58	0	0	0	0	22	58				
ZBTB16	7704	broad.mit.edu	37	11	113935271	113935271	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:113935271G>A	ENST00000335953.4	+	2	1629	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E417K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	417					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGATAACGAGGCTGTGGA	0.632																																						uc001pop.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1249-1251)GAG>AAG		promyelocytic leukemia zinc finger protein							69.0	65.0	67.0					11																	113935271		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113935271G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1249G>A	11.37:g.113935271G>A	ENSP00000338157:p.Glu417Lys					ZBTB16_uc001poo.1_Missense_Mutation_p.E417K|ZBTB16_uc001poq.2_Missense_Mutation_p.E417K	p.E417K	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	1513	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	417			C2H2-type 1.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1249G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008922	0.54361	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.10382	2.88;2.88	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.104578	0.64402	D	0.000004	T	0.08268	0.0206	L	0.27053	0.805	0.80722	D	1	B;P	0.49862	0.205;0.929	B;B	0.32533	0.023;0.147	T	0.15009	-1.0452	10	0.59425	D	0.04	-17.741	18.9155	0.92505	0.0:0.0:1.0:0.0	.	417;422	Q05516;Q59H43	ZBT16_HUMAN;.	K	417;417;294	ENSP00000338157:E417K;ENSP00000376721:E417K	ENSP00000309507:E294K	E	+	1	0	ZBTB16	113440481	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.686000	0.84128	2.700000	0.92200	0.563000	0.77884	GAG		0.632	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		21	10	0	0	0	0	21	10				
ZBTB16	7704	broad.mit.edu	37	11	114121062	114121062	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:114121062G>C	ENST00000335953.4	+	7	2187	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.E603Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	603					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GAAGCCCTTTGAGTGTAAGCT	0.622																																						uc001pop.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1807-1809)GAG>CAG		promyelocytic leukemia zinc finger protein							93.0	82.0	86.0					11																	114121062		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114121062G>C	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1807G>C	11.37:g.114121062G>C	ENSP00000338157:p.Glu603Gln					ZBTB16_uc001poq.2_Missense_Mutation_p.E603Q	p.E603Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	7	2071	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	603			C2H2-type 8.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1807G>C	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.949864	0.92660	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.20200	2.09;2.09	5.28	5.28	0.74379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	N	0.21583	0.68	0.58432	D	0.999993	D	0.76494	0.999	D	0.87578	0.998	T	0.06075	-1.0847	10	0.24483	T	0.36	-16.3613	18.8905	0.92399	0.0:0.0:1.0:0.0	.	603	Q05516	ZBT16_HUMAN	Q	603;603;480	ENSP00000338157:E603Q;ENSP00000376721:E603Q	ENSP00000309507:E480Q	E	+	1	0	ZBTB16	113626272	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.762000	0.98944	2.460000	0.83146	0.443000	0.29094	GAG		0.622	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		21	23	0	0	0	0	21	23				
OR8D1	283159	broad.mit.edu	37	11	124180474	124180474	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:124180474G>A	ENST00000357821.2	-	1	259	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAAGCTGCTGAGGAAATAGT	0.463																																						uc010sag.1		NA																	0				ovary(2)|skin(1)	3						c.(187-189)CTC>CTT		olfactory receptor, family 8, subfamily D,							87.0	81.0	83.0					11																	124180474		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180474G>A	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.189C>T	11.37:g.124180474G>A							p.L63L	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	189	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	63			Helical; Name=2; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.189C>T	CCDS31706.1																																																																																				0.463	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		26	24	0	0	0	0	26	24				
PUS3	83480	broad.mit.edu	37	11	125765351	125765351	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:125765351G>C	ENST00000530811.1	-	2	757	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	PUS3_ENST00000227474.3_Missense_Mutation_p.Q238E|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	238					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		ATAGTCCTCTGAAAATTAATC	0.443																																						uc001qcy.2		NA																	0				ovary(1)	1						c.(712-714)CAG>GAG		pseudouridylate synthase 3							91.0	93.0	92.0					11																	125765351		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765351G>C	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.712C>G	11.37:g.125765351G>C	ENSP00000432386:p.Gln238Glu					HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron	p.Q238E	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	810	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	238					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.712C>G	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	G	3.259	-0.151620	0.06585	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.48836	0.8;0.8	5.97	5.97	0.96955	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.190016	0.51477	D	0.000096	T	0.24509	0.0594	N	0.03115	-0.41	0.43058	D	0.99467	B	0.18166	0.026	B	0.25987	0.065	T	0.16867	-1.0388	10	0.02654	T	1	-7.9523	15.1661	0.72825	0.0:0.0:0.8589:0.1411	.	238	Q9BZE2	PUS3_HUMAN	E	238	ENSP00000227474:Q238E;ENSP00000432386:Q238E	ENSP00000227474:Q238E	Q	-	1	0	PUS3	125270561	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.811000	0.69187	2.835000	0.97688	0.591000	0.81541	CAG		0.443	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		34	18	0	0	0	0	34	18				
GLB1L2	89944	broad.mit.edu	37	11	134241000	134241000	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:134241000C>A	ENST00000535456.2	+	13	1502	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	GLB1L2_ENST00000389881.3_Silent_p.T438T|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.T438T	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	438					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCAGCATCACCTCGTCTGGCA	0.527																																						uc001qhp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1312-1314)ACC>ACA		galactosidase, beta 1-like 2 precursor							141.0	134.0	137.0					11																	134241000		2201	4297	6498	SO:0001819	synonymous_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134241000C>A		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1314C>A	11.37:g.134241000C>A						GLB1L2_uc009zdg.1_RNA	p.T438T	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	13	1502	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	438					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Silent	SNP	ENST00000535456.2	37	c.1314C>A	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	C	3.856	-0.030931	0.07543	.	.	ENSG00000149328	ENST00000525089	.	.	.	5.77	0.608	0.17569	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-0.6111	5.5253	0.16955	0.0:0.4814:0.1375:0.3811	.	.	.	.	I	377	.	.	L	+	1	0	GLB1L2	133746210	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.147000	0.16202	0.144000	0.18951	-0.137000	0.14449	CTC		0.527	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		43	81	1	0	2.62e-09	2.8e-09	43	81				
CACNA1C	775	broad.mit.edu	37	12	2774867	2774867	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:2774867G>A	ENST00000347598.4	+	38	4663	c.4663G>A	c.(4663-4665)Gaa>Aaa	p.E1555K	CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1527K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1529K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1494K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1496K|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1532K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1524K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1535K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1507K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1496K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1555					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTATGACCCTGAAGCCAAGTA	0.517																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(4663-4665)GAA>AAA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						59.0	59.0	59.0					12																	2774867		2063	4251	6314	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2774867G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4663G>A	12.37:g.2774867G>A	ENSP00000266376:p.Glu1555Lys					CACNA1C_uc009zdv.1_Missense_Mutation_p.E1504K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qke.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1494K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1529K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1496K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1555K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qko.2_Missense_Mutation_p.E1527K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1524K|CACNA1C_uc001qku.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1535K|CACNA1C_uc001qks.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1507K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1243K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1232K|CACNA1C_uc010sea.1_Missense_Mutation_p.E198K	p.E1555K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	38	4976	+			1555			Cytoplasmic (Potential).|By similarity.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4663G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422138	0.83559	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96587	-3.97;-3.96;-3.96;-3.94;-3.96;-4.0;-3.89;-3.95;-3.97;-3.87;-3.89;-3.97;-4.02;-3.88;-3.81;-4.06;-3.99;-3.96;-3.98;-3.9;-3.97;-4.06	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;P;D;D;D;D;D	0.89917	1.0;0.996;0.999;1.0;0.993;0.999;0.999;0.998;0.999;0.999;0.999;0.998;0.733;0.998;0.997;0.997;0.99;1.0;0.999;0.928;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;P;D;D;D;D;D	0.85130	0.971;0.99;0.994;0.96;0.99;0.996;0.994;0.997;0.972;0.979;0.996;0.99;0.623;0.997;0.98;0.993;0.961;0.982;0.996;0.771;0.994;0.996;0.996;0.988;0.991	D	0.97835	1.0265	10	0.56958	D	0.05	.	18.9213	0.92526	0.0:0.0:1.0:0.0	.	198;1529;1504;1555;1507;1507;1507;1524;1535;1507;1527;1507;1467;1555;1507;1507;1507;1496;1494;1496;1496;1507;1507;1507;1507	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1532;1507;1507;1535;1507;1507;1507;1496;1507;1555;1527;1507;1529;1524;1507;1494;1507;1507;1507;1507;1507;1496;1337	ENSP00000336982:E1532K;ENSP00000382563:E1507K;ENSP00000382552:E1507K;ENSP00000382547:E1535K;ENSP00000382506:E1507K;ENSP00000382530:E1507K;ENSP00000382546:E1507K;ENSP00000382500:E1496K;ENSP00000382549:E1507K;ENSP00000266376:E1555K;ENSP00000382515:E1527K;ENSP00000382510:E1507K;ENSP00000341092:E1529K;ENSP00000382537:E1524K;ENSP00000329877:E1507K;ENSP00000382557:E1494K;ENSP00000385724:E1507K;ENSP00000382512:E1507K;ENSP00000382542:E1507K;ENSP00000382526:E1507K;ENSP00000385896:E1507K;ENSP00000382504:E1496K	ENSP00000323129:E1337K	E	+	1	0	CACNA1C	2645128	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	9.601000	0.98297	2.775000	0.95449	0.655000	0.94253	GAA		0.517	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		10	18	0	0	0	0	10	18				
CD27	939	broad.mit.edu	37	12	6554306	6554306	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:6554306G>A	ENST00000266557.3	+	1	274	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	15					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGGGGACCCTGGTGGGGCTCT	0.642																																						uc001qod.2		NA																	0					0						c.(43-45)CTG>CTA		tumor necrosis factor receptor superfamily,							19.0	24.0	22.0					12																	6554306		2203	4299	6502	SO:0001819	synonymous_variant	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6554306G>A	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.45G>A	12.37:g.6554306G>A						LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank	p.L15L	NM_001242	NP_001233	P26842	CD27_HUMAN			1	256	+			15					B2RDZ0	Silent	SNP	ENST00000266557.3	37	c.45G>A	CCDS8545.1																																																																																				0.642	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1			9	15	0	0	0	0	9	15				
DUSP16	80824	broad.mit.edu	37	12	12630651	12630651	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:12630651C>G	ENST00000228862.2	-	7	1745	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	372					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGGCTGTCCTCTAACAGCGAC	0.622																																					Ovarian(158;443 1896 15437 36069 46477)	uc001rao.1		NA																	0					0						c.(1114-1116)GAG>CAG		dual specificity phosphatase 16							47.0	48.0	48.0					12																	12630651		2203	4300	6503	SO:0001583	missense	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630651C>G	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1114G>C	12.37:g.12630651C>G	ENSP00000228862:p.Glu372Gln					DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.E224Q	p.E372Q	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1746	-		Prostate(47;0.0687)	372					Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.1114G>C	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.520996	0.27211	.	.	ENSG00000111266	ENST00000228862	T	0.01998	4.51	5.58	3.74	0.42951	.	0.545449	0.19738	N	0.107184	T	0.03608	0.0103	L	0.56769	1.78	0.80722	D	1	P;P	0.37176	0.586;0.586	B;B	0.38106	0.265;0.265	T	0.52609	-0.8553	10	0.38643	T	0.18	.	10.2004	0.43080	0.1375:0.7923:0.0:0.0702	.	372;372	Q9BY84;Q96N49	DUS16_HUMAN;.	Q	372	ENSP00000228862:E372Q	ENSP00000228862:E372Q	E	-	1	0	DUSP16	12521918	1.000000	0.71417	0.251000	0.24312	0.255000	0.26057	5.496000	0.66918	1.338000	0.45544	0.563000	0.77884	GAG		0.622	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		23	35	0	0	0	0	23	35				
GRIN2B	2904	broad.mit.edu	37	12	14019074	14019074	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:14019074G>C	ENST00000609686.1	-	2	278	c.69C>G	c.(67-69)ggC>ggG	p.G23G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	23					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAGCTCTGCTGCCTGACACGG	0.582																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(67-69)GGC>GGG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						45.0	49.0	47.0					12																	14019074		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019074G>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.69C>G	12.37:g.14019074G>C							p.G23G	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	248	-			23					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.69C>G	CCDS8662.1																																																																																				0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			23	34	0	0	0	0	23	34				
PIK3C2G	5288	broad.mit.edu	37	12	18439791	18439791	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:18439791G>C	ENST00000266497.5	+	2	727	c.689G>C	c.(688-690)tGt>tCt	p.C230S	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.C230S|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.C230S|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.C230S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	230					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAATAGGTTGTTCCATTCAG	0.299																																						uc001rdt.2		NA																	0				lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(688-690)TGT>TCT		phosphoinositide-3-kinase, class 2 gamma							38.0	35.0	36.0					12																	18439791		1795	4061	5856	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18439791G>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.689G>C	12.37:g.18439791G>C	ENSP00000266497:p.Cys230Ser					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.C230S|PIK3C2G_uc010sic.1_Missense_Mutation_p.C8S	p.C230S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			3	805	+		Hepatocellular(102;0.194)	230					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.689G>C	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626862	0.28978	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	3.77	1.91	0.25777	.	1.944350	0.01953	N	0.042810	T	0.32255	0.0823	L	0.29908	0.895	0.21325	N	0.999726	B;B;B	0.30973	0.201;0.302;0.201	B;B;B	0.33620	0.081;0.167;0.081	T	0.17992	-1.0351	10	0.15952	T	0.53	-1.2938	5.2009	0.15264	0.1152:0.2113:0.6736:0.0	.	229;230;230	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	230	ENSP00000443850:C230S;ENSP00000404845:C230S;ENSP00000266497:C230S;ENSP00000445381:C230S	ENSP00000266497:C230S	C	+	2	0	PIK3C2G	18331058	0.974000	0.33945	0.758000	0.31321	0.852000	0.48524	0.692000	0.25482	0.570000	0.29347	0.585000	0.79938	TGT		0.299	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		3	8	0	0	0	0	3	8				
RECQL	5965	broad.mit.edu	37	12	21629873	21629873	+	Silent	SNP	G	G	C	rs138413466		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:21629873G>C	ENST00000444129.2	-	8	1389	c.921C>G	c.(919-921)ctC>ctG	p.L307L	RECQL_ENST00000421138.2_Silent_p.L307L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	307	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TCCCATTAATGAGCTTTACAA	0.318								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NA																	0				ovary(1)|lung(1)	2						c.(919-921)CTC>CTG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							108.0	101.0	103.0					12																	21629873		2202	4299	6501	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21629873G>C	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.921C>G	12.37:g.21629873G>C						RECQL_uc001rey.2_Silent_p.L307L	p.L307L	NM_032941	NP_116559	P46063	RECQ1_HUMAN			9	1269	-			307			Helicase C-terminal.		A8K6G2	Silent	SNP	ENST00000444129.2	37	c.921C>G	CCDS31756.1																																																																																				0.318	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		3	23	0	0	0	0	3	23				
C12orf71	728858	broad.mit.edu	37	12	27235188	27235188	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27235188G>C	ENST00000429849.2	-	1	259	c.229C>G	c.(229-231)Cag>Gag	p.Q77E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	77										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGTTCATCCTGAATTTGGTCT	0.507																																						uc001rhq.2		NA																	0					0						c.(229-231)CAG>GAG		hypothetical protein LOC728858							85.0	85.0	85.0					12																	27235188		1993	4175	6168	SO:0001583	missense	728858							g.chr12:27235188G>C		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.229C>G	12.37:g.27235188G>C	ENSP00000413728:p.Gln77Glu						p.Q77E	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			1	268	-			77						Missense_Mutation	SNP	ENST00000429849.2	37	c.229C>G	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	G	6.290	0.421650	0.11928	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.44083	0.93	3.32	-1.36	0.09085	.	1.175850	0.06846	N	0.796510	T	0.23886	0.0578	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.23619	-1.0183	10	0.16896	T	0.51	0.5378	5.9534	0.19259	0.0:0.3716:0.2964:0.332	.	77	A8MTZ7	CL071_HUMAN	E	77	ENSP00000413728:Q77E	ENSP00000381796:Q77E	Q	-	1	0	C12orf71	27126455	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.219000	0.09228	-0.439000	0.07222	-0.416000	0.06073	CAG		0.507	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		17	30	0	0	0	0	17	30				
MRPS35	60488	broad.mit.edu	37	12	27869326	27869326	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:27869326C>G	ENST00000081029.3	+	3	327	c.256C>G	c.(256-258)Cga>Gga	p.R86G	MRPS35_ENST00000538315.1_Missense_Mutation_p.R86G	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTTCCTGTTCGAATGGGTTA	0.453																																						uc001rih.2		NA																	0					0						c.(256-258)CGA>GGA		mitochondrial ribosomal protein S35 precursor							91.0	86.0	88.0					12																	27869326		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27869326C>G	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.256C>G	12.37:g.27869326C>G	ENSP00000081029:p.Arg86Gly					MRPS35_uc001rii.2_Missense_Mutation_p.R86G	p.R86G	NM_021821	NP_068593	P82673	RT35_HUMAN			3	304	+	Lung SC(9;0.0873)		86					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.256C>G	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344051	0.61073	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.57907	0.37;0.37	5.88	2.92	0.33932	.	0.107613	0.64402	N	0.000006	T	0.71651	0.3365	M	0.84773	2.715	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.72157	-0.4375	10	0.87932	D	0	-22.1759	9.6831	0.40082	0.3071:0.5598:0.1331:0.0	.	86;86	P82673-2;P82673	.;RT35_HUMAN	G	86	ENSP00000081029:R86G;ENSP00000445390:R86G	ENSP00000081029:R86G	R	+	1	2	MRPS35	27760593	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	1.755000	0.38379	0.311000	0.23014	-0.274000	0.10170	CGA		0.453	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		25	27	0	0	0	0	25	27				
LRRK2	120892	broad.mit.edu	37	12	40696615	40696615	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:40696615C>G	ENST00000298910.7	+	26	3579	c.3521C>G	c.(3520-3522)tCt>tGt	p.S1174C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S1174C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1174					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCCTCCTTCTATGACAATC	0.269																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3520-3522)TCT>TGT		leucine-rich repeat kinase 2							79.0	93.0	88.0					12																	40696615		2201	4285	6486	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40696615C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3521C>G	12.37:g.40696615C>G	ENSP00000298910:p.Ser1174Cys					LRRK2_uc001rmh.1_Missense_Mutation_p.S796C|LRRK2_uc009zjw.2_Missense_Mutation_p.S12C|LRRK2_uc001rmi.2_Missense_Mutation_p.S7C	p.S1174C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			26	3642	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1174			LRR 8.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3521C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862662	0.51482	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.60171	0.21;1.61	5.38	4.43	0.53597	.	0.214361	0.48286	D	0.000183	T	0.71126	0.3303	M	0.85197	2.74	0.40607	D	0.981636	D;D;D	0.76494	0.998;0.999;0.995	P;P;P	0.59703	0.784;0.862;0.784	T	0.75342	-0.3351	10	0.72032	D	0.01	.	7.4749	0.27369	0.2499:0.5024:0.2477:0.0	.	1174;1174;1174	Q17RV3;E9PC85;Q5S007	.;.;LRRK2_HUMAN	C	1174	ENSP00000341930:S1174C;ENSP00000298910:S1174C	ENSP00000298910:S1174C	S	+	2	0	LRRK2	38982882	0.993000	0.37304	0.962000	0.40283	0.725000	0.41563	2.833000	0.48159	2.689000	0.91719	0.655000	0.94253	TCT		0.269	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		46	121	0	0	0	0	46	121				
C12orf54	121273	broad.mit.edu	37	12	48888677	48888677	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48888677G>A	ENST00000548364.1	+	7	396	c.339G>A	c.(337-339)ctG>ctA	p.L113L	C12orf54_ENST00000314014.2_Silent_p.L113L|RP11-722P11.4_ENST00000551847.1_RNA			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	113										endometrium(1)|large_intestine(4)	5						TCCACAACCTGAAGACACAGC	0.498																																						uc001rrr.2		NA																	0					0						c.(337-339)CTG>CTA		hypothetical protein LOC121273							173.0	155.0	161.0					12																	48888677		2203	4300	6503	SO:0001819	synonymous_variant	121273							g.chr12:48888677G>A	BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.339G>A	12.37:g.48888677G>A						C12orf54_uc009zky.1_RNA	p.L113L	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN			7	396	+			113					Q6X4S9|Q8N5S2	Silent	SNP	ENST00000548364.1	37	c.339G>A	CCDS8764.1																																																																																				0.498	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319		45	84	0	0	0	0	45	84				
OR8S1	341568	broad.mit.edu	37	12	48919697	48919697	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919697G>A	ENST00000310194.1	+	1	283	c.283G>A	c.(283-285)Gag>Aag	p.E95K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CATTTCAGTAGAGGGCTGCCT	0.527																																						uc010slu.1		NA																	0				skin(1)	1						c.(283-285)GAG>AAG		olfactory receptor, family 8, subfamily S,							103.0	100.0	101.0					12																	48919697		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919697G>A		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.283G>A	12.37:g.48919697G>A	ENSP00000310632:p.Glu95Lys						p.E95K	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	283	+			95			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.283G>A	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771624	0.16051	.	.	ENSG00000197376	ENST00000310194	T	0.00397	7.57	5.03	-2.04	0.07343	GPCR, rhodopsin-like superfamily (1);	1.387420	0.04821	N	0.436922	T	0.00271	0.0008	L	0.49571	1.57	0.09310	N	1	B	0.16802	0.019	B	0.15484	0.013	T	0.37361	-0.9709	10	0.21014	T	0.42	-3.0186	5.4607	0.16615	0.5007:0.2674:0.2319:0.0	.	95	Q8NH09	OR8S1_HUMAN	K	95	ENSP00000310632:E95K	ENSP00000310632:E95K	E	+	1	0	OR8S1	47205964	0.000000	0.05858	0.005000	0.12908	0.938000	0.57974	-1.281000	0.02802	-0.360000	0.08138	-0.165000	0.13383	GAG		0.527	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			21	53	0	0	0	0	21	53				
OR8S1	341568	broad.mit.edu	37	12	48919765	48919765	+	Silent	SNP	G	G	T	rs528623386		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:48919765G>T	ENST00000310194.1	+	1	351	c.351G>T	c.(349-351)ggG>ggT	p.G117G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TTCTCTCAGGGATGGCCTATG	0.537																																						uc010slu.1		NA																	0				skin(1)	1						c.(349-351)GGG>GGT		olfactory receptor, family 8, subfamily S,							116.0	107.0	110.0					12																	48919765		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919765G>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.351G>T	12.37:g.48919765G>T							p.G117G	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	351	+			117			Helical; Name=3; (Potential).			Silent	SNP	ENST00000310194.1	37	c.351G>T	CCDS31789.1																																																																																				0.537	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			38	67	1	0	6.53e-18	7.18e-18	38	67				
SCN8A	6334	broad.mit.edu	37	12	52156422	52156422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:52156422G>C	ENST00000354534.6	+	15	2684	c.2506G>C	c.(2506-2508)Gac>Cac	p.D836H	SCN8A_ENST00000545061.1_Missense_Mutation_p.D836H|SCN8A_ENST00000550891.1_Missense_Mutation_p.D836H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	836					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GAGTCTAGCAGACGTGGAGGG	0.408																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(2506-2508)GAC>CAC		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						125.0	123.0	124.0					12																	52156422		1877	4130	6007	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52156422G>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2506G>C	12.37:g.52156422G>C	ENSP00000346534:p.Asp836His					SCN8A_uc010snl.1_Missense_Mutation_p.D701H|SCN8A_uc001ryy.2_Missense_Mutation_p.D701H	p.D836H	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	15	2684	+			836			II.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2506G>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066206	0.36470	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.23	1.41	0.22369	Ion transport (1);	0.179169	0.48286	D	0.000185	D	0.96303	0.8794	L	0.53729	1.69	0.53688	D	0.999971	B;B;P	0.34864	0.131;0.0;0.473	B;B;P	0.44990	0.286;0.002;0.466	D	0.93538	0.6875	10	0.66056	D	0.02	.	7.0491	0.25063	0.2231:0.1265:0.6504:0.0	.	836;836;836	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	H	836;836;836;836;749	ENSP00000448415:D836H;ENSP00000346534:D836H;ENSP00000440360:D836H;ENSP00000347255:D836H	ENSP00000346534:D836H	D	+	1	0	SCN8A	50442689	1.000000	0.71417	0.905000	0.35620	0.966000	0.64601	2.533000	0.45667	0.320000	0.23234	0.455000	0.32223	GAC		0.408	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		47	86	0	0	0	0	47	86				
MAP3K12	7786	broad.mit.edu	37	12	53879964	53879964	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:53879964C>T	ENST00000267079.2	-	5	823	c.598G>A	c.(598-600)Gag>Aag	p.E200K	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E233K|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E233K|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CGCAGTACCTCATACAGCTGG	0.597																																						uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(598-600)GAG>AAG		mitogen-activated protein kinase kinase kinase							71.0	69.0	70.0					12																	53879964		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879964C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.598G>A	12.37:g.53879964C>T	ENSP00000267079:p.Glu200Lys					MAP3K12_uc001sdn.1_Missense_Mutation_p.E233K	p.E200K	NM_006301	NP_006292	Q12852	M3K12_HUMAN			5	696	-			200			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.598G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189035	0.94923	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.89123	-2.47;-2.47;-2.47	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000303	D	0.86564	0.5963	N	0.20766	0.605	0.80722	D	1	P;P	0.42123	0.729;0.771	B;P	0.48304	0.437;0.573	D	0.86385	0.1732	10	0.40728	T	0.16	.	18.2434	0.89977	0.0:1.0:0.0:0.0	.	233;200	G3V1Y2;Q12852	.;M3K12_HUMAN	K	200;233;233	ENSP00000267079:E200K;ENSP00000449038:E233K;ENSP00000448689:E233K	ENSP00000267079:E200K	E	-	1	0	MAP3K12	52166231	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.818000	0.86416	2.688000	0.91661	0.561000	0.74099	GAG		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		23	34	0	0	0	0	23	34				
HOXC13	3229	broad.mit.edu	37	12	54338956	54338956	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:54338956G>C	ENST00000243056.3	+	2	1065	c.909G>C	c.(907-909)caG>caC	p.Q303H		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	303					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CTGAGCGCCAGGTAACCATCT	0.577			T	NUP98	AML																																	uc001sei.2		NA		Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)	1						c.(907-909)CAG>CAC		homeobox C13							63.0	69.0	67.0					12																	54338956		2203	4300	6503	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54338956G>C		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.909G>C	12.37:g.54338956G>C	ENSP00000243056:p.Gln303His					HOXC13_uc010sop.1_RNA	p.Q303H	NM_017410	NP_059106	P31276	HXC13_HUMAN			2	1024	+			303			Homeobox.		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.909G>C	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394923	0.62066	.	.	ENSG00000123364	ENST00000243056	D	0.97114	-4.25	4.95	-0.559	0.11792	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.96080	3.765	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.97677	1.0170	10	0.87932	D	0	.	9.2477	0.37536	0.5348:0.0:0.4652:0.0	.	303	P31276	HXC13_HUMAN	H	303	ENSP00000243056:Q303H	ENSP00000243056:Q303H	Q	+	3	2	HOXC13	52625223	0.047000	0.20315	0.994000	0.49952	0.992000	0.81027	-0.437000	0.06914	-0.191000	0.10448	-0.150000	0.13652	CAG		0.577	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			26	39	0	0	0	0	26	39				
STAT2	6773	broad.mit.edu	37	12	56742395	56742395	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:56742395G>T	ENST00000314128.4	-	19	1665	c.1642C>A	c.(1642-1644)Cct>Act	p.P548T	STAT2_ENST00000557235.1_Missense_Mutation_p.P544T|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	548					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AACTTGCCAGGAGGGCTCTCT	0.527																																						uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(1642-1644)CCT>ACT		signal transducer and activator of transcription							102.0	91.0	94.0					12																	56742395		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742395G>T	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1642C>A	12.37:g.56742395G>T	ENSP00000315768:p.Pro548Thr					STAT2_uc001slb.2_Missense_Mutation_p.P90T|STAT2_uc001sld.2_Missense_Mutation_p.P544T	p.P548T	NM_005419	NP_005410	P52630	STAT2_HUMAN			19	1720	-			548					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1642C>A	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043216	0.55003	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.87729	-2.29;-2.29	5.22	4.34	0.51931	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91026	0.7177	L	0.60455	1.87	0.80722	D	1	P;D	0.89917	0.864;1.0	P;D	0.75484	0.583;0.986	D	0.91105	0.4917	10	0.62326	D	0.03	-9.2649	11.4247	0.50003	0.0853:0.0:0.9147:0.0	.	544;548	G3V2M6;P52630	.;STAT2_HUMAN	T	548;544	ENSP00000315768:P548T;ENSP00000450751:P544T	ENSP00000315768:P548T	P	-	1	0	STAT2	55028662	0.991000	0.36638	0.855000	0.33649	0.942000	0.58702	2.455000	0.44988	1.360000	0.45960	0.655000	0.94253	CCT		0.527	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		35	52	1	0	2.42e-17	2.65e-17	35	52				
LRP1	4035	broad.mit.edu	37	12	57573152	57573152	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57573152C>T	ENST00000243077.3	+	29	5245	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1593					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGATGGAGATCCGAGGTGTGG	0.567																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4777-4779)ATC>ATT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						216.0	152.0	174.0					12																	57573152		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573152C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4779C>T	12.37:g.57573152C>T							p.I1593I	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	29	5245	+			1593			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4779C>T	CCDS8932.1																																																																																				0.567	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	19	0	0	0	0	13	19				
SHMT2	6472	broad.mit.edu	37	12	57626334	57626334	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57626334C>G	ENST00000328923.3	+	6	1145	c.693C>G	c.(691-693)ctC>ctG	p.L231L	SHMT2_ENST00000557487.1_Silent_p.L221L|SHMT2_ENST00000393827.4_Silent_p.L135L|SHMT2_ENST00000449049.3_Silent_p.L210L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Silent_p.L210L|SHMT2_ENST00000414700.3_Silent_p.L210L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	231					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	ATGCTCGCCTCATTGACTACG	0.632																																					Esophageal Squamous(150;1369 2416 49071 49364)	uc001snf.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(691-693)CTC>CTG		serine hydroxymethyltransferase 2	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						81.0	85.0	83.0					12																	57626334		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626334C>G	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.693C>G	12.37:g.57626334C>G						SHMT2_uc001sng.1_Silent_p.L127L|SHMT2_uc001snh.1_Silent_p.L70L|SHMT2_uc009zpk.1_Silent_p.L221L|SHMT2_uc001sni.1_Silent_p.L210L|SHMT2_uc010srg.1_Silent_p.L240L|SHMT2_uc001snj.1_Silent_p.L135L|SHMT2_uc010srh.1_Silent_p.L210L|SHMT2_uc001snk.1_Silent_p.L135L|SHMT2_uc010sri.1_Silent_p.L210L|SHMT2_uc001snl.2_Silent_p.L135L|SHMT2_uc010srj.1_5'Flank	p.L231L	NM_005412	NP_005403	P34897	GLYM_HUMAN			6	703	+			231					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.693C>G	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	9.472	1.095877	0.20552	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.09	3.26	0.37387	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48703	-0.9012	4	.	.	.	-3.2876	5.9646	0.19318	0.1527:0.6852:0.0:0.1621	.	.	.	.	D	31	.	.	H	+	1	0	SHMT2	55912601	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.003000	0.40844	0.853000	0.35312	0.563000	0.77884	CAT		0.632	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		46	90	0	0	0	0	46	90				
INHBE	83729	broad.mit.edu	37	12	57850383	57850383	+	Missense_Mutation	SNP	G	G	A	rs571755879		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:57850383G>A	ENST00000266646.2	+	2	1021	c.805G>A	c.(805-807)Gag>Aag	p.E269K	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	269					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						ACTGCAGCCCGAGGGGTACCA	0.612											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.0				GBM(191;1808 2166 15720 36624 50371)	uc001snw.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(805-807)GAG>AAG		activin beta E precursor							74.0	74.0	74.0					12																	57850383		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850383G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.805G>A	12.37:g.57850383G>A	ENSP00000266646:p.Glu269Lys		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026		p.E269K	NM_031479	NP_113667	P58166	INHBE_HUMAN			2	1029	+			269						Missense_Mutation	SNP	ENST00000266646.2	37	c.805G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134909	0.77662	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;D	0.84070	-1.8;-1.8	4.79	4.79	0.61399	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	N	0.10945	0.07	0.49299	D	0.999775	B	0.32382	0.368	B	0.31686	0.134	T	0.66921	-0.5801	10	0.19147	T	0.46	-16.2972	17.1522	0.86781	0.0:0.0:1.0:0.0	.	269	P58166	INHBE_HUMAN	K	214;269	ENSP00000450212:E214K;ENSP00000266646:E269K	ENSP00000266646:E269K	E	+	1	0	INHBE	56136650	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	3.833000	0.55790	2.653000	0.90120	0.655000	0.94253	GAG		0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		34	48	0	0	0	0	34	48				
METTL21B	25895	broad.mit.edu	37	12	58163393	58163393	+	5'Flank	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:58163393G>C	ENST00000300209.8	+	0	0				CYP27B1_ENST00000228606.4_5'Flank|METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000257848.7_Missense_Mutation_p.Q115E|METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.I176M	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GGGTGGGACTGATGATTCGCC	0.542																																						uc010ssd.1		NA																	0					0						c.(526-528)ATC>ATG		methyltransferase-like protein 1 isoform a							183.0	158.0	166.0					12																	58163393		2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58163393G>C	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163393G>C	Exception_encountered					CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Missense_Mutation_p.Q115E|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank	p.I176M	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		4	576	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		176					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.528C>G	CCDS8957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.30|19.30	3.800881|3.800881	0.70567|0.70567	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000324871|ENST00000257848;ENST00000547653;ENST00000548504	T|.	0.44083|.	0.93|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.052773|.	0.64402|.	D|.	0.000001|.	T|T	0.77785|0.77785	0.4182|0.4182	M|M	0.92691|0.92691	3.335|3.335	0.26696|0.26696	N|N	0.971262|0.971262	D|D	0.71674|0.61697	0.998|0.99	D|D	0.73708|0.72982	0.981|0.979	T|T	0.73871|0.73871	-0.3846|-0.3846	10|8	0.87932|0.87932	D|D	0|0	-17.6657|-17.6657	12.0154|12.0154	0.53311|0.53311	0.0805:0.0:0.9195:0.0|0.0805:0.0:0.9195:0.0	.|.	176|115	Q9UBP6|Q53FS9	TRMB_HUMAN|.	M|E	176|115;16;41	ENSP00000314441:I176M|.	ENSP00000314441:I176M|ENSP00000257848:Q115E	I|Q	-|-	3|1	3|0	METTL1|METTL1	56449660|56449660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.674000|3.674000	0.54598|0.54598	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	ATC|CAG		0.542	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		45	95	0	0	0	0	45	95				
E2F7	144455	broad.mit.edu	37	12	77419538	77419538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:77419538C>T	ENST00000322886.7	-	12	2600	c.2365G>A	c.(2365-2367)Gga>Aga	p.G789R	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	789					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GCTATTGATCCAAGGCCAGGC	0.537																																						uc001sym.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(2365-2367)GGA>AGA		E2F transcription factor 7							76.0	75.0	75.0					12																	77419538		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77419538C>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2365G>A	12.37:g.77419538C>T	ENSP00000323246:p.Gly789Arg					E2F7_uc009zse.2_Intron	p.G789R	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			12	2601	-			789					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2365G>A	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.25|13.25	2.181439|2.181439	0.38511|0.38511	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000339887|ENST00000322886	.|T	.|0.14893	.|2.47	5.91|5.91	2.98|2.98	0.34508|0.34508	.|.	.|0.510205	.|0.20106	.|N	.|0.099131	.|T	.|0.09992	.|0.0245	N|N	0.17082|0.17082	0.46|0.46	0.33621|0.33621	D|D	0.6048|0.6048	.|B	.|0.15719	.|0.014	.|B	.|0.14578	.|0.011	.|T	.|0.06285	.|-1.0835	.|10	.|0.59425	.|D	.|0.04	.|-12.5353	7.3737|7.3737	0.26817|0.26817	0.0:0.6643:0.1313:0.2045|0.0:0.6643:0.1313:0.2045	.|.	.|789	.|Q96AV8	.|E2F7_HUMAN	.|R	-1|789	.|ENSP00000323246:G789R	.|ENSP00000323246:G789R	.|G	-|-	.|1	.|0	E2F7|E2F7	75943669|75943669	0.006000|0.006000	0.16342|0.16342	0.660000|0.660000	0.29694|0.29694	0.878000|0.878000	0.50629|0.50629	-0.082000|-0.082000	0.11304|0.11304	1.524000|1.524000	0.49035|0.49035	0.650000|0.650000	0.86243|0.86243	.|GGA		0.537	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		20	32	0	0	0	0	20	32				
C12orf50	160419	broad.mit.edu	37	12	88381726	88381726	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:88381726G>A	ENST00000298699.2	-	9	898	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	240										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCTTTGGATGAGGACTGTCC	0.333																																						uc001tam.1		NA																	0				skin(2)|ovary(1)	3						c.(718-720)CAT>TAT		hypothetical protein LOC160419							150.0	132.0	138.0					12																	88381726		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88381726G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.718C>T	12.37:g.88381726G>A	ENSP00000298699:p.His240Tyr					C12orf50_uc001tan.2_Intron	p.H240Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			9	886	-			240					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.718C>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518429	0.64634	.	.	ENSG00000165805	ENST00000298699	T	0.32515	1.45	5.76	5.76	0.90799	.	0.090442	0.49305	D	0.000156	T	0.40909	0.1136	M	0.68317	2.08	0.80722	D	1	P	0.40731	0.728	B	0.44044	0.439	T	0.32134	-0.9918	10	0.72032	D	0.01	.	15.4619	0.75363	0.0:0.0:1.0:0.0	.	240	Q8NA57	CL050_HUMAN	Y	240	ENSP00000298699:H240Y	ENSP00000298699:H240Y	H	-	1	0	C12orf50	86905857	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.489000	0.60309	2.722000	0.93159	0.650000	0.86243	CAT		0.333	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		24	37	0	0	0	0	24	37				
FGD6	55785	broad.mit.edu	37	12	95603900	95603900	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603900T>A	ENST00000343958.4	-	2	1383	c.1160A>T	c.(1159-1161)aAt>aTt	p.N387I	FGD6_ENST00000549499.1_Missense_Mutation_p.N387I|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.N387I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	387					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGATTCCATATTCAATTCACT	0.333																																						uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(1159-1161)AAT>ATT		FYVE, RhoGEF and PH domain containing 6							144.0	144.0	144.0					12																	95603900		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603900T>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1160A>T	12.37:g.95603900T>A	ENSP00000344446:p.Asn387Ile					FGD6_uc009zsx.2_Intron	p.N387I	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	1384	-			387					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.1160A>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	T	2.890	-0.229783	0.06022	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.67345	-0.16;-0.26;-0.18	5.71	1.7	0.24286	.	0.647303	0.13798	N	0.362052	T	0.51381	0.1671	L	0.44542	1.39	0.09310	N	1	P	0.45902	0.868	B	0.37198	0.243	T	0.38845	-0.9642	10	0.42905	T	0.14	-10.7054	7.0819	0.25235	0.0:0.1429:0.2545:0.6026	.	387	Q6ZV73	FGD6_HUMAN	I	387	ENSP00000344446:N387I;ENSP00000450342:N387I;ENSP00000449005:N387I	ENSP00000344446:N387I	N	-	2	0	FGD6	94128031	0.013000	0.17824	0.002000	0.10522	0.020000	0.10135	0.889000	0.28282	0.419000	0.25927	0.459000	0.35465	AAT		0.333	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		30	68	0	0	0	0	30	68				
FGD6	55785	broad.mit.edu	37	12	95603902	95603902	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:95603902C>T	ENST00000343958.4	-	2	1381	c.1158G>A	c.(1156-1158)ttG>ttA	p.L386L	FGD6_ENST00000549499.1_Silent_p.L386L|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Silent_p.L386L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	386					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTCCATATTCAATTCACTTT	0.333																																						uc001tdp.3		NA																	0				ovary(2)|breast(1)	3						c.(1156-1158)TTG>TTA		FYVE, RhoGEF and PH domain containing 6							140.0	141.0	140.0					12																	95603902		2203	4300	6503	SO:0001819	synonymous_variant	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95603902C>T	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1158G>A	12.37:g.95603902C>T						FGD6_uc009zsx.2_Intron	p.L386L	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	1382	-			386					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	ENST00000343958.4	37	c.1158G>A	CCDS31878.1																																																																																				0.333	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		29	68	0	0	0	0	29	68				
ARL1	400	broad.mit.edu	37	12	101794928	101794928	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:101794928G>C	ENST00000261636.8	-	4	422	c.248C>G	c.(247-249)tCa>tGa	p.S83*	ARL1_ENST00000551828.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000551671.1_Nonsense_Mutation_p.S83*|ARL1_ENST00000539055.1_Nonsense_Mutation_p.S37*|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000536227.1_Nonsense_Mutation_p.S66*|ARL1_ENST00000551688.1_Intron	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	83					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.S83*(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATCTGTGTTTGAATAGTAACA	0.368																																						uc001tib.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(247-249)TCA>TGA		ADP-ribosylation factor-like 1							123.0	113.0	116.0					12																	101794928		1855	4098	5953	SO:0001587	stop_gained	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101794928G>C	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.248C>G	12.37:g.101794928G>C	ENSP00000261636:p.Ser83*					ARL1_uc010svn.1_Nonsense_Mutation_p.S37*|ARL1_uc010svo.1_RNA|ARL1_uc001tic.2_Nonsense_Mutation_p.S83*	p.S83*	NM_001177	NP_001168	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	4	397	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	83					B4DWW1|P80417|Q53XB1	Nonsense_Mutation	SNP	ENST00000261636.8	37	c.248C>G	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	G	38	7.122152	0.98077	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.9158	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	83;37;66;66;83	.	ENSP00000261636:S83X	S	-	2	0	ARL1	100319059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.297000	0.96120	2.937000	0.99478	0.650000	0.86243	TCA		0.368	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		28	77	0	0	0	0	28	77				
CORO1C	23603	broad.mit.edu	37	12	109051145	109051145	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109051145C>T	ENST00000261401.3	-	6	857	c.685G>A	c.(685-687)Gat>Aat	p.D229N	CORO1C_ENST00000421578.2_Missense_Mutation_p.D124N|CORO1C_ENST00000420959.2_Missense_Mutation_p.D282N|CORO1C_ENST00000549772.1_Missense_Mutation_p.D235N|CORO1C_ENST00000541050.1_Missense_Mutation_p.D229N|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	229					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.D229N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						ACATTGCCATCGGCCAGGAAG	0.547																																						uc001tnj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(685-687)GAT>AAT		coronin, actin binding protein, 1C isoform 1							93.0	86.0	89.0					12																	109051145		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109051145C>T	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.685G>A	12.37:g.109051145C>T	ENSP00000261401:p.Asp229Asn					CORO1C_uc009zva.2_Missense_Mutation_p.D282N|CORO1C_uc010sxf.1_Missense_Mutation_p.D192N	p.D229N	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			6	781	-			229					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.685G>A	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687355	0.48097	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000421578;ENST00000549772;ENST00000420959;ENST00000552871	T;T;T;T;T;T	0.64803	4.76;4.76;4.76;4.76;4.76;-0.12	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045307	0.85682	D	0.000000	T	0.57213	0.2038	L	0.48986	1.54	0.80722	D	1	B;B;B	0.13145	0.007;0.002;0.003	B;B;B	0.10450	0.005;0.005;0.003	T	0.54214	-0.8327	10	0.13470	T	0.59	-0.7691	18.8822	0.92360	0.0:1.0:0.0:0.0	.	192;282;229	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	N	229;229;124;235;282;124	ENSP00000261401:D229N;ENSP00000438341:D229N;ENSP00000415554:D124N;ENSP00000447534:D235N;ENSP00000394496:D282N;ENSP00000449658:D124N	ENSP00000261401:D229N	D	-	1	0	CORO1C	107575274	1.000000	0.71417	0.284000	0.24805	0.988000	0.76386	4.940000	0.63533	2.444000	0.82710	0.637000	0.83480	GAT		0.547	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		37	54	0	0	0	0	37	54				
ACACB	32	broad.mit.edu	37	12	109675123	109675123	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109675123G>C	ENST00000338432.7	+	34	4719	c.4600G>C	c.(4600-4602)Gaa>Caa	p.E1534Q	ACACB_ENST00000377848.3_Missense_Mutation_p.E1534Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1464Q|ACACB_ENST00000543201.1_Missense_Mutation_p.E200Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1534					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGAAGGTGTGGAAGTGACGGA	0.532																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(4600-4602)GAA>CAA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						168.0	121.0	137.0					12																	109675123		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109675123G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4600G>C	12.37:g.109675123G>C	ENSP00000341044:p.Glu1534Gln					ACACB_uc001toc.2_Missense_Mutation_p.E1534Q|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E200Q	p.E1534Q	NM_001093	NP_001084	O00763	ACACB_HUMAN			34	4719	+			1534					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4600G>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298895	0.60195	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.76	4.76	0.60689	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	L	0.42744	1.35	0.80722	D	1	P	0.45396	0.857	P	0.55999	0.789	T	0.50180	-0.8858	10	0.44086	T	0.13	.	18.6559	0.91453	0.0:0.0:1.0:0.0	.	1534	O00763	ACACB_HUMAN	Q	1534;1534;1464;765;200	ENSP00000341044:E1534Q;ENSP00000367079:E1534Q;ENSP00000367085:E1464Q;ENSP00000444075:E200Q	ENSP00000341044:E1534Q	E	+	1	0	ACACB	108159506	1.000000	0.71417	0.645000	0.29479	0.740000	0.42216	9.798000	0.99111	2.590000	0.87494	0.561000	0.74099	GAA		0.532	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		27	42	0	0	0	0	27	42				
UBE3B	89910	broad.mit.edu	37	12	109945505	109945505	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:109945505G>A	ENST00000342494.3	+	15	2182	c.1587G>A	c.(1585-1587)ctG>ctA	p.L529L	UBE3B_ENST00000434735.2_Silent_p.L529L|UBE3B_ENST00000280774.5_Silent_p.L529L|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	529					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGGCCATGCTGATGCTGTTCT	0.498																																						uc001top.2		NA																	0				ovary(2)|lung(2)	4						c.(1585-1587)CTG>CTA		ubiquitin protein ligase E3B							182.0	152.0	162.0					12																	109945505		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109945505G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1587G>A	12.37:g.109945505G>A						UBE3B_uc001toq.2_Silent_p.L529L|UBE3B_uc001tos.2_5'Flank|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Silent_p.L529L	p.L529L	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			15	2190	+			529					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.1587G>A	CCDS9129.1																																																																																				0.498	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		56	82	0	0	0	0	56	82				
TRPV4	59341	broad.mit.edu	37	12	110246198	110246198	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:110246198G>C	ENST00000418703.2	-	2	556	c.462C>G	c.(460-462)ctC>ctG	p.L154L	TRPV4_ENST00000541794.1_Silent_p.L154L|TRPV4_ENST00000261740.2_Silent_p.L154L|TRPV4_ENST00000392719.2_Silent_p.L154L|TRPV4_ENST00000536838.1_Silent_p.L120L|TRPV4_ENST00000544971.1_Silent_p.L154L|TRPV4_ENST00000537083.1_Silent_p.L154L|TRPV4_ENST00000346520.2_Silent_p.L154L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	154					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGATGTCAAAGAGGATAGGCC	0.607																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(460-462)CTC>CTG		transient receptor potential cation channel,							60.0	55.0	57.0					12																	110246198		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110246198G>C	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.462C>G	12.37:g.110246198G>C						TRPV4_uc001tpg.1_Silent_p.L120L|TRPV4_uc001tph.1_Silent_p.L154L|TRPV4_uc001tpi.1_Silent_p.L154L|TRPV4_uc001tpk.1_Silent_p.L154L|TRPV4_uc001tpl.1_Silent_p.L154L	p.L154L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			2	557	-			154			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.462C>G	CCDS9134.1																																																																																				0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		17	56	0	0	0	0	17	56				
DDX54	79039	broad.mit.edu	37	12	113612896	113612896	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:113612896C>A	ENST00000306014.5	-	8	846	c.819G>T	c.(817-819)caG>caT	p.Q273H	DDX54_ENST00000314045.7_Missense_Mutation_p.Q273H	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	273	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGCACCGTCTGGTGGCCCC	0.657											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tup.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(817-819)CAG>CAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							34.0	41.0	38.0					12																	113612896		2202	4300	6502	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113612896C>A	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.819G>T	12.37:g.113612896C>A	ENSP00000304072:p.Gln273His		OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	DDX54_uc001tuq.3_Missense_Mutation_p.Q273H	p.Q273H	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			8	847	-			273			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.819G>T	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449400	0.84101	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.54479	0.57;0.57;0.57	4.52	4.52	0.55395	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.83682	0.0172	10	0.87932	D	0	.	17.0288	0.86455	0.0:1.0:0.0:0.0	.	273;273	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	H	273;273;190	ENSP00000323858:Q273H;ENSP00000304072:Q273H;ENSP00000448477:Q190H	ENSP00000304072:Q273H	Q	-	3	2	DDX54	112097279	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	3.842000	0.55858	2.352000	0.79861	0.484000	0.47621	CAG		0.657	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		26	53	1	0	1.22e-17	1.34e-17	26	53				
WSB2	55884	broad.mit.edu	37	12	118474261	118474261	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:118474261G>C	ENST00000315436.3	-	6	856	c.715C>G	c.(715-717)Caa>Gaa	p.Q239E	WSB2_ENST00000544233.1_Missense_Mutation_p.Q29E|WSB2_ENST00000542304.1_Missense_Mutation_p.Q14E|WSB2_ENST00000535496.1_Missense_Mutation_p.Q241E|WSB2_ENST00000441406.2_Missense_Mutation_p.Q256E|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	239					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACTGCTTTGATGGCCCTCT	0.507																																						uc001twr.2		NA																	0				ovary(1)	1						c.(715-717)CAA>GAA		WD SOCS-box protein 2							177.0	156.0	163.0					12																	118474261		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118474261G>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.715C>G	12.37:g.118474261G>C	ENSP00000319474:p.Gln239Glu					WSB2_uc010sza.1_Missense_Mutation_p.Q14E|WSB2_uc010szb.1_Missense_Mutation_p.Q29E|WSB2_uc009zws.1_Missense_Mutation_p.Q239E	p.Q239E	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			6	813	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		239			WD 4.		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.715C>G	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963270	0.53507	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496;ENST00000537945	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;5.11	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.252938	0.42548	D	0.000681	T	0.36166	0.0957	N	0.11845	0.185	0.49483	D	0.999798	B	0.24823	0.112	B	0.21708	0.036	T	0.20472	-1.0274	10	0.11794	T	0.64	-19.0461	19.3511	0.94387	0.0:0.0:1.0:0.0	.	239	Q9NYS7	WSB2_HUMAN	E	239;14;256;29;241;241	ENSP00000319474:Q239E;ENSP00000445941:Q14E;ENSP00000409131:Q256E;ENSP00000444431:Q29E;ENSP00000439450:Q241E;ENSP00000440386:Q241E	ENSP00000319474:Q239E	Q	-	1	0	WSB2	116958644	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.656000	0.74396	2.665000	0.90641	0.655000	0.94253	CAA		0.507	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		56	87	0	0	0	0	56	87				
CCDC64	92558	broad.mit.edu	37	12	120518755	120518755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:120518755C>T	ENST00000397558.2	+	7	1373	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	CCDC64_ENST00000446727.2_Missense_Mutation_p.S129F|CCDC64_ENST00000257583.4_Missense_Mutation_p.S155F	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	458					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGTCACTTCTGAGGACAAG	0.498																																						uc001txl.1		NA																	0				ovary(2)	2						c.(1372-1374)TCT>TTT		coiled-coil domain containing 64							72.0	81.0	78.0					12																	120518755		2056	4203	6259	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120518755C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1373C>T	12.37:g.120518755C>T	ENSP00000380690:p.Ser458Phe					CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.S129F|CCDC64_uc010szf.1_Missense_Mutation_p.S155F	p.S458F	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN			7	1398	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		458			Potential.		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.1373C>T	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548169	0.65311	.	.	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T;T	0.05081	3.5;3.5;3.5	5.32	5.32	0.75619	.	1.116300	0.06621	N	0.757384	T	0.11153	0.0272	N	0.19112	0.55	0.35273	D	0.780608	D;D;P	0.61080	0.975;0.989;0.911	P;P;P	0.52066	0.637;0.689;0.563	T	0.29243	-1.0018	10	0.39692	T	0.17	-1.9213	15.3707	0.74560	0.0:0.8604:0.1396:0.0	.	155;129;458	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	F	458;129;176;155	ENSP00000380690:S458F;ENSP00000399658:S129F;ENSP00000447477:S176F	ENSP00000257583:S155F	S	+	2	0	CCDC64	119003138	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	5.626000	0.67777	2.492000	0.84095	0.561000	0.74099	TCT		0.498	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		21	34	0	0	0	0	21	34				
HCAR3	8843	broad.mit.edu	37	12	123200745	123200745	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:123200745G>C	ENST00000528880.2	-	1	694	c.540C>G	c.(538-540)ttC>ttG	p.F180L	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GGCAGATGCTGAAGCTGATGC	0.522																																						uc001ucy.3		NA																	0				ovary(1)|skin(1)	2						c.(538-540)TTC>TTG		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						89.0	87.0	88.0					12																	123200745		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200745G>C	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.540C>G	12.37:g.123200745G>C	ENSP00000436714:p.Phe180Leu					GPR81_uc001ucw.1_Intron	p.F180L	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	695	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		180			Extracellular (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.540C>G	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399239	0.42512	.	.	ENSG00000255398	ENST00000528880	T	0.36157	1.27	3.41	-3.33	0.04958	.	.	.	.	.	T	0.43188	0.1236	L	0.49778	1.585	0.32061	N	0.595713	D	0.89917	1.0	D	0.87578	0.998	T	0.51601	-0.8685	9	0.10902	T	0.67	.	8.6059	0.33773	0.4922:0.0:0.5078:0.0	.	180	E9PI97	.	L	180	ENSP00000436714:F180L	ENSP00000436714:F180L	F	-	3	2	HCAR3	121766698	0.846000	0.29590	0.978000	0.43139	0.176000	0.22953	0.900000	0.28431	-0.677000	0.05231	0.184000	0.17185	TTC		0.522	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		25	53	0	0	0	0	25	53				
GPR133	283383	broad.mit.edu	37	12	131569129	131569129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:131569129G>C	ENST00000261654.5	+	15	2151	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	GPR133_ENST00000535015.1_Missense_Mutation_p.R563T|GPR133_ENST00000543617.1_Missense_Mutation_p.R50T|GPR133_ENST00000376682.4_Missense_Mutation_p.R217T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	531	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCGCTCACGAGAGGAAACCTC	0.622																																						uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(1591-1593)AGA>ACA		G protein-coupled receptor 133 precursor							149.0	106.0	120.0					12																	131569129		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131569129G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1592G>C	12.37:g.131569129G>C	ENSP00000261654:p.Arg531Thr					GPR133_uc010tbm.1_Missense_Mutation_p.R563T|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.R50T	p.R531T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	15	2151	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		531			GPS.|Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1592G>C	CCDS9272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.393|0.393	-0.922546|-0.922546	0.02396|0.02396	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;-0.33	4.99|4.99	-1.85|-1.85	0.07784|0.07784	.|GPS domain (3);	.|0.758790	.|0.12217	.|N	.|0.488749	T|T	0.39462|0.39462	0.1079|0.1079	N|N	0.11154|0.11154	0.105|0.105	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.001	.|B;B;B	.|0.17979	.|0.009;0.001;0.02	T|T	0.20739|0.20739	-1.0266|-1.0266	5|10	.|0.23302	.|T	.|0.38	.|.	5.7696|5.7696	0.18245|0.18245	0.5603:0.1369:0.3028:0.0|0.5603:0.1369:0.3028:0.0	.|.	.|563;50;531	.|B7ZLF7;Q6QNK2-3;Q6QNK2	.|.;.;GP133_HUMAN	Q|T	53|531;563;217;50	.|ENSP00000261654:R531T;ENSP00000444425:R563T;ENSP00000365872:R217T;ENSP00000438021:R50T	.|ENSP00000261654:R531T	E|R	+|+	1|2	0|0	GPR133|GPR133	130135082|130135082	0.058000|0.058000	0.20735|0.20735	0.018000|0.018000	0.16275|0.16275	0.008000|0.008000	0.06430|0.06430	0.904000|0.904000	0.28491|0.28491	-0.049000|-0.049000	0.13379|0.13379	-0.966000|-0.966000	0.02617|0.02617	GAG|AGA		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		20	32	0	0	0	0	20	32				
TNFRSF19	55504	broad.mit.edu	37	13	24243009	24243009	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:24243009G>A	ENST00000382258.4	+	9	1222	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E208K|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.E340K|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E340K	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	340					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTCAATCCAGAACTTGAAAG	0.448																																						uc001uov.1		NA																	0				kidney(1)|skin(1)	2						c.(1018-1020)GAA>AAA		tumor necrosis factor receptor superfamily,							176.0	170.0	172.0					13																	24243009		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24243009G>A	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1018G>A	13.37:g.24243009G>A	ENSP00000371693:p.Glu340Lys					TNFRSF19_uc001uot.2_Missense_Mutation_p.E340K|TNFRSF19_uc010tcu.1_Missense_Mutation_p.E208K|TNFRSF19_uc001uow.2_Missense_Mutation_p.E340K	p.E340K	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	9	1082	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	340			Cytoplasmic (Potential).		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.1018G>A	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422963	0.43020	.	.	ENSG00000127863	ENST00000248484;ENST00000403372;ENST00000382258;ENST00000382263	T;T;T;T	0.80214	-1.33;1.28;-1.35;-1.33	5.95	4.14	0.48551	.	0.303483	0.35349	N	0.003274	T	0.75576	0.3868	L	0.57536	1.79	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.15484	0.013;0.004;0.004	T	0.64228	-0.6457	10	0.33940	T	0.23	-7.8099	11.6604	0.51343	0.0668:0.124:0.8092:0.0	.	208;340;340	B4E2I6;Q9NS68;Q9NS68-2	.;TNR19_HUMAN;.	K	340;208;340;340	ENSP00000248484:E340K;ENSP00000385408:E208K;ENSP00000371693:E340K;ENSP00000371698:E340K	ENSP00000248484:E340K	E	+	1	0	TNFRSF19	23141009	0.950000	0.32346	0.054000	0.19295	0.001000	0.01503	3.413000	0.52686	1.533000	0.49186	-0.137000	0.14449	GAA		0.448	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		46	40	0	0	0	0	46	40				
TSC22D1	8848	broad.mit.edu	37	13	45149790	45149790	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149790G>C	ENST00000458659.2	-	1	911	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.L141V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	141					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATTCATCCAGATCATCATAG	0.488																																						uc001uzn.3		NA																	0					0						c.(421-423)CTG>GTG		TSC22 domain family, member 1 isoform 1							117.0	114.0	115.0					13																	45149790		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149790G>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.421C>G	13.37:g.45149790G>C	ENSP00000397435:p.Leu141Val					TSC22D1_uc001uzo.1_Missense_Mutation_p.L141V	p.L141V	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	912	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	141					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.421C>G	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	8.920	0.960790	0.18583	.	.	ENSG00000102804	ENST00000458659;ENST00000501704;ENST00000493016	T;T;T	0.26223	1.75;1.75;1.75	4.65	0.988	0.19796	.	0.000000	0.42172	D	0.000744	T	0.39655	0.1086	L	0.50333	1.59	0.45183	D	0.998193	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.01725	-1.1287	10	0.31617	T	0.26	.	11.3425	0.49541	0.282:0.0:0.718:0.0	.	141;141	B3KRL7;Q15714	.;T22D1_HUMAN	V	141	ENSP00000397435:L141V;ENSP00000437414:L141V;ENSP00000418739:L141V	ENSP00000397435:L141V	L	-	1	2	TSC22D1	44047790	1.000000	0.71417	0.091000	0.20842	0.138000	0.21146	3.131000	0.50515	-0.255000	0.09486	-1.134000	0.01955	CTG		0.488	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		26	21	0	0	0	0	26	21				
TSC22D1	8848	broad.mit.edu	37	13	45149798	45149798	+	Missense_Mutation	SNP	T	T	C	rs373613322		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:45149798T>C	ENST00000458659.2	-	1	903	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.Y138C	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	138					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAGATCATCATAGCTCTCAGT	0.473																																						uc001uzn.3		NA																	0					0						c.(412-414)TAT>TGT		TSC22 domain family, member 1 isoform 1		T	CYS/TYR	0,4406		0,0,2203	120.0	117.0	118.0		413	3.5	0.9	13		118	3,8597	3.0+/-9.4	0,3,4297	no	missense	TSC22D1	NM_183422.3	194	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	possibly-damaging	138/1074	45149798	3,13003	2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149798T>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.413A>G	13.37:g.45149798T>C	ENSP00000397435:p.Tyr138Cys					TSC22D1_uc001uzo.1_Missense_Mutation_p.Y138C	p.Y138C	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	904	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	138					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.413A>G	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	T	7.947	0.744126	0.15710	0.0	3.49E-4	ENSG00000102804	ENST00000458659;ENST00000501704;ENST00000493016	T;T;T	0.24723	1.84;1.84;1.84	4.65	3.46	0.39613	.	0.000000	0.49305	D	0.000153	T	0.11665	0.0284	N	0.08118	0	0.43703	D	0.996167	B;P	0.36599	0.339;0.56	B;B	0.30646	0.118;0.092	T	0.11397	-1.0589	10	0.72032	D	0.01	.	9.2891	0.37775	0.0:0.0867:0.0:0.9133	.	138;138	B3KRL7;Q15714	.;T22D1_HUMAN	C	138	ENSP00000397435:Y138C;ENSP00000437414:Y138C;ENSP00000418739:Y138C	ENSP00000397435:Y138C	Y	-	2	0	TSC22D1	44047798	1.000000	0.71417	0.879000	0.34478	0.198000	0.23893	5.826000	0.69293	0.795000	0.33922	0.459000	0.35465	TAT		0.473	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		25	23	0	0	0	0	25	23				
RAP2A	5911	broad.mit.edu	37	13	98086796	98086796	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr13:98086796G>C	ENST00000245304.4	+	1	321	c.72G>C	c.(70-72)gtG>gtC	p.V24V		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	24					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TGCAGTTCGTGACCGGCACCT	0.652																																						uc001vnd.2		NA																	0				central_nervous_system(1)	1						c.(70-72)GTG>GTC		RAP2A, member of RAS oncogene family precursor							92.0	87.0	89.0					13																	98086796		2203	4300	6503	SO:0001819	synonymous_variant	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086796G>C	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.72G>C	13.37:g.98086796G>C							p.V24V	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		1	322	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		24					B2RCJ1|Q5JSC1|Q5JSC2	Silent	SNP	ENST00000245304.4	37	c.72G>C	CCDS9485.1																																																																																				0.652	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4			34	19	0	0	0	0	34	19				
MYH7	4625	broad.mit.edu	37	14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:23901905C>T	ENST00000355349.3	-	5	607	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGGGGCCTCGCTCCTCTTC	0.597																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(445-447)GAG>AAG		myosin, heavy chain 7, cardiac muscle, beta							95.0	91.0	92.0					14																	23901905		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23901905C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.445G>A	14.37:g.23901905C>T	ENSP00000347507:p.Glu149Lys						p.E149K	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	5	551	-	all_cancers(95;2.54e-05)		149			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.445G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.998595	0.74818	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.91464	-2.85	3.61	3.61	0.41365	Myosin head, motor domain (2);	.	.	.	.	D	0.92283	0.7552	M	0.90542	3.125	0.80722	D	1	B	0.20459	0.045	B	0.21708	0.036	D	0.92619	0.6106	9	0.87932	D	0	.	15.807	0.78520	0.0:1.0:0.0:0.0	.	149	P12883	MYH7_HUMAN	K	149	ENSP00000347507:E149K	ENSP00000347507:E149K	E	-	1	0	MYH7	22971745	1.000000	0.71417	0.955000	0.39395	0.886000	0.51366	5.737000	0.68606	2.015000	0.59207	0.455000	0.32223	GAG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		47	30	0	0	0	0	47	30				
NYNRIN	57523	broad.mit.edu	37	14	24886199	24886199	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:24886199C>T	ENST00000382554.3	+	9	5562	c.5244C>T	c.(5242-5244)ttC>ttT	p.F1748F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1748	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ACCTGGCCTTCAGGGCCTCCT	0.612																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5242-5244)TTC>TTT		hypothetical protein LOC57523							28.0	31.0	30.0					14																	24886199		2040	4195	6235	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886199C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5244C>T	14.37:g.24886199C>T							p.F1748F	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	5562	+			1748			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.5244C>T	CCDS45090.1																																																																																				0.612	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			12	9	0	0	0	0	12	9				
POLE2	5427	broad.mit.edu	37	14	50117106	50117106	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:50117106G>C	ENST00000216367.5	-	17	1473	c.1374C>G	c.(1372-1374)gtC>gtG	p.V458V	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.V458V|POLE2_ENST00000539565.2_Silent_p.V432V	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	458					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	ACACTGGGCAGACATAAAGAG	0.398																																						uc001wwu.2		NA																	0				ovary(1)|skin(1)	2						c.(1372-1374)GTC>GTG		DNA-directed DNA polymerase epsilon 2							139.0	133.0	135.0					14																	50117106		2203	4300	6503	SO:0001819	synonymous_variant	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50117106G>C	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1374C>G	14.37:g.50117106G>C						SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Silent_p.V172V|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Silent_p.V173V	p.V458V	NM_002692	NP_002683	P56282	DPOE2_HUMAN			17	1388	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		458					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	ENST00000216367.5	37	c.1374C>G	CCDS32073.1																																																																																				0.398	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		44	20	0	0	0	0	44	20				
DLGAP5	9787	broad.mit.edu	37	14	55625316	55625316	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:55625316C>G	ENST00000247191.2	-	14	2013	c.1797G>C	c.(1795-1797)gtG>gtC	p.V599V	DLGAP5_ENST00000395425.2_Silent_p.V599V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	599					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTTGGTATCACAGAAACTG	0.363																																						uc001xbs.2		NA																	0				ovary(1)|skin(1)	2						c.(1795-1797)GTG>GTC		discs large homolog 7 isoform a							121.0	110.0	114.0					14																	55625316		2202	4300	6502	SO:0001819	synonymous_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625316C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1797G>C	14.37:g.55625316C>G						DLGAP5_uc001xbt.2_Silent_p.V599V	p.V599V	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			14	2014	-			599					A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	c.1797G>C	CCDS9723.1																																																																																				0.363	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		30	23	0	0	0	0	30	23				
SLC35F4	341880	broad.mit.edu	37	14	58048118	58048118	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:58048118C>A	ENST00000339762.6	-	4	728	c.729G>T	c.(727-729)ctG>ctT	p.L243L	SLC35F4_ENST00000556826.1_Silent_p.L207L|RP11-409I10.2_ENST00000555600.1_RNA|SLC35F4_ENST00000554729.1_Silent_p.L84L			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	243					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTTCAGCGTCAGACCATCTT	0.403																																						uc001xdb.1		NA																	0				ovary(2)	2						c.(727-729)CTG>CTT		solute carrier family 35, member F4							48.0	45.0	46.0					14																	58048118		1871	4116	5987	SO:0001819	synonymous_variant	341880							g.chr14:58048118C>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.729G>T	14.37:g.58048118C>A						SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.L84L	p.L243L	NM_001080455	NP_001073924					4	729	-								A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.729G>T																																																																																					0.403	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		3	9	1	0	0.004672	0.00476727	3	9				
ACTN1	87	broad.mit.edu	37	14	69352204	69352204	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:69352204C>G	ENST00000193403.6	-	12	1706	c.1323G>C	c.(1321-1323)gaG>gaC	p.E441D	ACTN1_ENST00000394419.4_Missense_Mutation_p.E441D|ACTN1_ENST00000538545.2_Missense_Mutation_p.E441D|ACTN1_ENST00000376839.3_Missense_Mutation_p.E376D|ACTN1_ENST00000438964.2_Missense_Mutation_p.E441D	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	441	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGTCACTCTCGAAGGCCT	0.617																																						uc001xkl.2		NA																	0				central_nervous_system(1)	1						c.(1321-1323)GAG>GAC		actinin, alpha 1 isoform b							120.0	92.0	102.0					14																	69352204		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69352204C>G	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1323G>C	14.37:g.69352204C>G	ENSP00000193403:p.Glu441Asp					ACTN1_uc001xkk.2_Missense_Mutation_p.E37D|ACTN1_uc010ttb.1_Missense_Mutation_p.E376D|ACTN1_uc001xkm.2_Missense_Mutation_p.E441D|ACTN1_uc001xkn.2_Missense_Mutation_p.E441D|ACTN1_uc010ttc.1_Missense_Mutation_p.E26D|ACTN1_uc001xko.1_Missense_Mutation_p.E376D|ACTN1_uc010ttd.1_Missense_Mutation_p.E420D	p.E441D	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	12	1633	-			441			Spectrin 2.|Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1323G>C	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821778	0.90873	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.88377	2.95	0.80722	D	1	P;D;P;P;B;P	0.58268	0.882;0.982;0.569;0.939;0.358;0.9	P;D;P;P;P;D	0.73380	0.855;0.98;0.677;0.784;0.745;0.911	T	0.77720	-0.2482	10	0.54805	T	0.06	.	12.28	0.54759	0.0:0.9231:0.0:0.0769	.	441;72;441;441;441;88	B7TY16;B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.;.;.;.;ACTN1_HUMAN;.	D	441;441;441;376;441;31	ENSP00000193403:E441D;ENSP00000377941:E441D;ENSP00000414272:E441D;ENSP00000366035:E376D;ENSP00000439828:E441D;ENSP00000444422:E31D	ENSP00000193403:E441D	E	-	3	2	ACTN1	68421957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.166000	0.50785	2.706000	0.92434	0.655000	0.94253	GAG		0.617	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		16	11	0	0	0	0	16	11				
SYNJ2BP	55333	broad.mit.edu	37	14	70839806	70839806	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70839806C>T	ENST00000256366.4	-	4	421	c.340G>A	c.(340-342)Gac>Aac	p.D114N	SYNJ2BP-COX16_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	114					intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CCACTTGGGTCCCCTTCACCT	0.463																																						uc001xmc.3		NA																	0					0						c.(340-342)GAC>AAC		synaptojanin 2 binding protein							153.0	126.0	135.0					14																	70839806		2203	4300	6503	SO:0001583	missense	55333					integral to membrane|mitochondrial outer membrane		g.chr14:70839806C>T	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.340G>A	14.37:g.70839806C>T	ENSP00000256366:p.Asp114Asn					SYNJ2BP_uc010arc.2_RNA	p.D114N	NM_018373	NP_060843	P57105	SYJ2B_HUMAN		all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	4	467	-			114			Cytoplasmic (Potential).		Q49SH3|Q96IA4	Missense_Mutation	SNP	ENST00000256366.4	37	c.340G>A	CCDS9803.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379534	0.61845	.	.	ENSG00000213463	ENST00000256366	T	0.17213	2.29	5.45	5.45	0.79879	.	0.435348	0.21458	N	0.074218	T	0.17874	0.0429	L	0.39898	1.24	0.34440	D	0.699505	B	0.09022	0.002	B	0.08055	0.003	T	0.06058	-1.0848	10	0.48119	T	0.1	-11.5965	17.0485	0.86511	0.0:1.0:0.0:0.0	.	114	P57105	SYJ2B_HUMAN	N	114	ENSP00000256366:D114N	ENSP00000256366:D114N	D	-	1	0	SYNJ2BP	69909559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.849000	0.48286	2.941000	0.99782	0.655000	0.94253	GAC		0.463	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		38	21	0	0	0	0	38	21				
ADAM21	8747	broad.mit.edu	37	14	70925890	70925890	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:70925890C>G	ENST00000603540.1	+	2	1932	c.1674C>G	c.(1672-1674)gtC>gtG	p.V558V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V558V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	558	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTCTGATGTCTTTTGTGGGA	0.398																																						uc001xmd.2		NA																	0				pancreas(1)|skin(1)	2						c.(1672-1674)GTC>GTG		ADAM metallopeptidase domain 21 preproprotein							41.0	51.0	48.0					14																	70925890		2193	4286	6479	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925890C>G	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1674C>G	14.37:g.70925890C>G							p.V558V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1674	+			558			Cys-rich.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.1674C>G	CCDS9804.1																																																																																				0.398	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			34	20	0	0	0	0	34	20				
SPTLC2	9517	broad.mit.edu	37	14	77984395	77984395	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:77984395C>G	ENST00000216484.2	-	11	1748	c.1555G>C	c.(1555-1557)Gaa>Caa	p.E519Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	519					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TCAAGTATTTCTTTGGTATGA	0.393																																						uc001xub.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1555-1557)GAA>CAA		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						103.0	100.0	101.0					14																	77984395		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:77984395C>G	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1555G>C	14.37:g.77984395C>G	ENSP00000216484:p.Glu519Gln						p.E519Q	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	11	1743	-			519					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1555G>C	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588244	0.86851	.	.	ENSG00000100596	ENST00000216484	D	0.96168	-3.93	5.59	5.59	0.84812	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.048105	0.85682	D	0.000000	D	0.96216	0.8766	M	0.73962	2.25	0.80722	D	1	P	0.38535	0.635	P	0.44811	0.461	D	0.96145	0.9103	10	0.59425	D	0.04	-23.4745	19.592	0.95518	0.0:1.0:0.0:0.0	.	519	O15270	SPTC2_HUMAN	Q	519	ENSP00000216484:E519Q	ENSP00000216484:E519Q	E	-	1	0	SPTLC2	77054148	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.626000	0.88956	0.557000	0.71058	GAA		0.393	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863		48	15	0	0	0	0	48	15				
TRIP11	9321	broad.mit.edu	37	14	92488172	92488172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:92488172C>G	ENST00000267622.4	-	4	689	c.316G>C	c.(316-318)Gaa>Caa	p.E106Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	106					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGGCTGATTTCTACCTATATA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(316-318)GAA>CAA		thyroid hormone receptor interactor 11							53.0	57.0	56.0					14																	92488172		2202	4300	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92488172C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.316G>C	14.37:g.92488172C>G	ENSP00000267622:p.Glu106Gln						p.E106Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	4	1104	-			106			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.316G>C	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	c	29.7	5.026620	0.93518	.	.	ENSG00000100815	ENST00000267622	T	0.76186	-1.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	M	0.62723	1.935	0.50632	D	0.999884	D	0.63880	0.993	D	0.65684	0.937	D	0.85623	0.1265	10	0.66056	D	0.02	.	18.961	0.92678	0.0:1.0:0.0:0.0	.	106	Q15643	TRIPB_HUMAN	Q	106	ENSP00000267622:E106Q	ENSP00000267622:E106Q	E	-	1	0	TRIP11	91557925	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.332000	0.79203	2.469000	0.83416	0.655000	0.94253	GAA		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			20	15	0	0	0	0	20	15				
SERPINA10	51156	broad.mit.edu	37	14	94756786	94756786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:94756786C>A	ENST00000393096.1	-	2	610	c.145G>T	c.(145-147)Gag>Tag	p.E49*	SERPINA10_ENST00000261994.4_Nonsense_Mutation_p.E49*|SERPINA10_ENST00000554723.1_Nonsense_Mutation_p.E89*|SERPINA10_ENST00000554173.1_Nonsense_Mutation_p.E49*	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	49					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCATCTTCCTCTTCCTCCTTG	0.617																																						uc001yct.2		NA																	0				ovary(2)|skin(1)	3						c.(145-147)GAG>TAG		serine (or cysteine) proteinase inhibitor, clade							41.0	40.0	40.0					14																	94756786		2203	4300	6503	SO:0001587	stop_gained	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756786C>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.145G>T	14.37:g.94756786C>A	ENSP00000376809:p.Glu49*					SERPINA10_uc001ycu.3_Nonsense_Mutation_p.E49*	p.E49*	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	611	-		all_cancers(154;0.105)	49					A5Z2A5|Q6UWX9|Q86U20	Nonsense_Mutation	SNP	ENST00000393096.1	37	c.145G>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	38	6.822167	0.97865	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	.	.	.	4.12	-0.277	0.12898	.	1.103140	0.07126	N	0.844758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	13.5332	0.61633	0.0:0.3631:0.6369:0.0	.	.	.	.	X	89;49;49;49	.	ENSP00000261994:E49X	E	-	1	0	SERPINA10	93826539	0.000000	0.05858	0.000000	0.03702	0.292000	0.27327	-0.015000	0.12634	-0.268000	0.09312	0.313000	0.20887	GAG		0.617	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		6	5	1	0	0.00116845	0.00120075	6	5				
ATG2B	55102	broad.mit.edu	37	14	96783494	96783494	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:96783494G>A	ENST00000359933.4	-	20	4091	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1066					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACATCTGTGAACACTGCTA	0.323																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(3196-3198)TTC>TTT		ATG2 autophagy related 2 homolog B							78.0	80.0	79.0					14																	96783494		1802	4077	5879	SO:0001819	synonymous_variant	55102							g.chr14:96783494G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3198C>T	14.37:g.96783494G>A							p.F1066F	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	3563	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1066					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.3198C>T	CCDS9944.2																																																																																				0.323	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		34	33	0	0	0	0	34	33				
PPP1R13B	23368	broad.mit.edu	37	14	104206422	104206422	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:104206422G>A	ENST00000202556.9	-	12	2613	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	PPP1R13B_ENST00000423488.2_Silent_p.P196P|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	777	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTGGGGCTGTGGGCTGGGCAG	0.602																																						uc001yof.1		NA																	0				ovary(1)	1						c.(2329-2331)CCC>CCT		apoptosis-stimulating protein of p53, 1							56.0	69.0	64.0					14																	104206422		1969	4137	6106	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104206422G>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2331C>T	14.37:g.104206422G>A						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P644P	p.P777P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			12	2614	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	777			Pro-rich.		B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.2331C>T	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	1.825	-0.471391	0.04445	.	.	ENSG00000088808	ENST00000380023	.	.	.	4.84	1.89	0.25635	.	.	.	.	.	T	0.57946	0.2088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56092	-0.8036	5	0.87932	D	0	.	3.2428	0.06787	0.2797:0.1149:0.4883:0.1171	.	.	.	.	Y	622	.	ENSP00000369362:H622Y	H	-	1	0	PPP1R13B	103276175	0.964000	0.33143	0.902000	0.35471	0.165000	0.22458	0.918000	0.28678	0.186000	0.20125	-1.134000	0.01955	CAC		0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		51	32	0	0	0	0	51	32				
NDN	4692	broad.mit.edu	37	15	23932341	23932341	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:23932341C>G	ENST00000331837.4	-	1	109	c.24G>C	c.(22-24)ctG>ctC	p.L8L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	8					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TAGGGTCGCTCAGATCCTTAC	0.657									Prader-Willi syndrome																													uc001ywk.2		NA																	0					0						c.(22-24)CTG>CTC		necdin							29.0	27.0	27.0					15																	23932341		1747	3454	5201	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932341C>G	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.24G>C	15.37:g.23932341C>G							p.L8L	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	110	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	8					B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.24G>C	CCDS10014.1																																																																																				0.657	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		9	26	0	0	0	0	9	26				
UBE3A	7337	broad.mit.edu	37	15	25599757	25599757	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:25599757C>T	ENST00000397954.2	-	8	2206	c.2207G>A	c.(2206-2208)gGt>gAt	p.G736D	UBE3A_ENST00000438097.1_Missense_Mutation_p.G713D|UBE3A_ENST00000566215.1_Missense_Mutation_p.G713D|UBE3A_ENST00000428984.2_Missense_Mutation_p.G713D|UBE3A_ENST00000232165.3_Missense_Mutation_p.G733D|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	736					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CATATGAAAACCTCTCCGAAA	0.353																																						uc001zaq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2206-2208)GGT>GAT		ubiquitin protein ligase E3A isoform 2							93.0	96.0	95.0					15																	25599757		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25599757C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2207G>A	15.37:g.25599757C>T	ENSP00000381045:p.Gly736Asp					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.G713D|UBE3A_uc001zas.2_Missense_Mutation_p.G733D|UBE3A_uc001zat.2_Missense_Mutation_p.G713D	p.G736D	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	8	2207	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	736					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2207G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008165	0.93346	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	5.65	5.65	0.86999	HECT (4);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97582	1.0111	10	0.87932	D	0	.	19.7278	0.96172	0.0:1.0:0.0:0.0	.	733;736	Q05086-3;Q05086	.;UBE3A_HUMAN	D	733;733;736;713;713	ENSP00000232165:G733D;ENSP00000381045:G736D;ENSP00000411258:G713D;ENSP00000401265:G713D	ENSP00000232165:G733D	G	-	2	0	UBE3A	23150850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.656000	0.90262	0.591000	0.81541	GGT		0.353	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		34	64	0	0	0	0	34	64				
GABRA5	2558	broad.mit.edu	37	15	27188522	27188522	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:27188522G>C	ENST00000335625.5	+	10	1926	c.1038G>C	c.(1036-1038)aaG>aaC	p.K346N	GABRA5_ENST00000355395.5_Missense_Mutation_p.K346N|GABRA5_ENST00000400081.3_Missense_Mutation_p.K346N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	346					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACTTTACCAAGAGAGGCTGGG	0.522																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(1036-1038)AAG>AAC		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						33.0	36.0	35.0					15																	27188522		1983	4193	6176	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27188522G>C		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1038G>C	15.37:g.27188522G>C	ENSP00000335592:p.Lys346Asn					GABRA5_uc001zbe.1_5'Flank	p.K346N	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	11	1377	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	346			Cytoplasmic (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1038G>C	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	-	16.52	3.145423	0.57044	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85171	-1.95;-1.95;-1.95	5.27	4.21	0.49690	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.101106	0.64402	D	0.000002	D	0.85831	0.5788	L	0.39514	1.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.81079	-0.1095	10	0.13470	T	0.59	.	8.0867	0.30775	0.2104:0.0:0.7896:0.0	.	346	P31644	GBRA5_HUMAN	N	346	ENSP00000335592:K346N;ENSP00000347557:K346N;ENSP00000382953:K346N	ENSP00000335592:K346N	K	+	3	2	GABRA5	24771268	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.114000	0.41911	1.105000	0.41606	0.651000	0.88453	AAG		0.522	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			3	5	0	0	0	0	3	5				
NUTM1	256646	broad.mit.edu	37	15	34646777	34646777	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:34646777C>G	ENST00000333756.4	+	5	1277	c.1122C>G	c.(1120-1122)atC>atG	p.I374M	NUTM1_ENST00000537011.1_Missense_Mutation_p.I402M|NUTM1_ENST00000438749.3_Missense_Mutation_p.I392M	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	374						cytoplasm (GO:0005737)|nucleus (GO:0005634)											ATGTTGACATCATGGAATGGC	0.587																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1120-1122)ATC>ATG		nuclear protein in testis							122.0	118.0	120.0					15																	34646777		2201	4298	6499	SO:0001583	missense	256646					cytoplasm|nucleus		g.chr15:34646777C>G	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1122C>G	15.37:g.34646777C>G	ENSP00000329448:p.Ile374Met					C15orf55_uc010ucc.1_Missense_Mutation_p.I402M|C15orf55_uc010ucd.1_Missense_Mutation_p.I392M	p.I374M	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	5	1277	+		all_lung(180;2.78e-08)	374					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.1122C>G	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643435	0.47258	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.16073	2.37;2.37;2.38	5.32	1.02	0.19986	Nuclear Testis protein, C-terminal (1);	0.000000	0.56097	D	0.000039	T	0.37019	0.0988	M	0.83483	2.645	0.28799	N	0.898899	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.994;0.998	T	0.14337	-1.0476	10	0.87932	D	0	.	5.139	0.14950	0.2863:0.5554:0.0:0.1583	.	392;402;374	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	M	402;392;243;374	ENSP00000444896:I402M;ENSP00000407031:I392M;ENSP00000329448:I374M	ENSP00000329448:I374M	I	+	3	3	C15orf55	32434069	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	1.236000	0.32683	0.319000	0.23209	0.591000	0.81541	ATC		0.587	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		40	57	0	0	0	0	40	57				
PLCB2	5330	broad.mit.edu	37	15	40591134	40591134	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:40591134C>G	ENST00000260402.3	-	9	964	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.E239Q|PLCB2_ENST00000456256.2_Missense_Mutation_p.E239Q	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	239					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GTCAGGTGCTCCTTCGTCATG	0.577																																						uc001zld.2		NA																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(715-717)GAG>CAG		phospholipase C, beta 2							96.0	101.0	99.0					15																	40591134		2041	4179	6220	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40591134C>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.715G>C	15.37:g.40591134C>G	ENSP00000260402:p.Glu239Gln					PLCB2_uc010bbo.2_Missense_Mutation_p.E239Q|PLCB2_uc010ucm.1_Missense_Mutation_p.E239Q	p.E239Q	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	9	1016	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	239					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.715G>C	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.426134	0.62733	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.49432	0.78;0.78	3.96	3.96	0.45880	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.060236	0.64402	D	0.000003	T	0.45458	0.1343	L	0.52759	1.655	0.80722	D	1	B;B;B	0.25007	0.022;0.116;0.059	B;B;B	0.26693	0.048;0.072;0.041	T	0.51474	-0.8701	10	0.59425	D	0.04	.	16.5705	0.84611	0.0:1.0:0.0:0.0	.	239;239;239	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Q	239	ENSP00000260402:E239Q;ENSP00000411991:E239Q	ENSP00000260402:E239Q	E	-	1	0	PLCB2	38378426	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.198000	0.70561	0.561000	0.74099	GAG		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			26	69	0	0	0	0	26	69				
CDAN1	146059	broad.mit.edu	37	15	43020963	43020963	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:43020963G>C	ENST00000356231.3	-	20	2714	c.2691C>G	c.(2689-2691)ctC>ctG	p.L897L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	897					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCTGCTCTTGGAGAAGTGACT	0.607																																						uc001zql.2		NA																	0				ovary(2)	2						c.(2689-2691)CTC>CTG		codanin 1							66.0	53.0	57.0					15																	43020963		2203	4299	6502	SO:0001819	synonymous_variant	146059					integral to membrane	protein binding	g.chr15:43020963G>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2691C>G	15.37:g.43020963G>C						CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.L223L	p.L897L	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	20	2808	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	897					Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	c.2691C>G	CCDS32209.1																																																																																				0.607	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		16	23	0	0	0	0	16	23				
SPG11	80208	broad.mit.edu	37	15	44955770	44955770	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:44955770G>C	ENST00000261866.7	-	1	92	c.76C>G	c.(76-78)Cta>Gta	p.L26V	SPG11_ENST00000535302.2_Missense_Mutation_p.L26V|SPG11_ENST00000427534.2_Missense_Mutation_p.L26V|SPG11_ENST00000559193.1_Missense_Mutation_p.L26V|SPG11_ENST00000558319.1_Missense_Mutation_p.L26V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	26					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCATCGGTAGAACCCGCCCC	0.721																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(76-78)CTA>GTA		spatacsin isoform 1							6.0	8.0	7.0					15																	44955770		2083	4158	6241	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44955770G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.76C>G	15.37:g.44955770G>C	ENSP00000261866:p.Leu26Val					SPG11_uc010ueh.1_Missense_Mutation_p.L26V|SPG11_uc010uei.1_Missense_Mutation_p.L26V|SPG11_uc001zua.1_Missense_Mutation_p.L26V	p.L26V	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	1	107	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	26			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.76C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185493	0.21870	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	D;T;T	0.82526	-1.62;-1.39;-1.38	5.75	1.87	0.25490	.	0.149763	0.31113	N	0.008230	D	0.87249	0.6130	M	0.64997	1.995	0.21527	N	0.999653	D;P;P;D	0.76494	0.999;0.734;0.734;0.998	D;B;B;D	0.83275	0.962;0.203;0.203;0.996	T	0.77950	-0.2395	10	0.87932	D	0	.	7.7779	0.29048	0.3309:0.0:0.6691:0.0	.	26;26;26;26	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	V	26	ENSP00000261866:L26V;ENSP00000445278:L26V;ENSP00000396110:L26V	ENSP00000261866:L26V	L	-	1	2	SPG11	42743062	0.093000	0.21703	0.004000	0.12327	0.019000	0.09904	0.601000	0.24119	0.103000	0.17682	-0.136000	0.14681	CTA		0.721	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			5	3	0	0	0	0	5	3				
LEO1	123169	broad.mit.edu	37	15	52242003	52242003	+	Splice_Site	SNP	A	A	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:52242003A>T	ENST00000299601.5	-	10	1859		c.e10+1		LEO1_ENST00000315141.5_Splice_Site	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)						endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TACACGACTCACCTCGAATGC	0.453																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.2		NA																	0					0						c.e10+1		Leo1, Paf1/RNA polymerase II complex component,							128.0	122.0	124.0					15																	52242003		2195	4293	6488	SO:0001630	splice_region_variant	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52242003A>T	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1798+1T>A	15.37:g.52242003A>T						LEO1_uc010bfd.2_Splice_Site_p.E540_splice	p.E600_splice	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	10	1814	-								Q96N99	Splice_Site	SNP	ENST00000299601.5	37	c.1798_splice	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582358	0.86748	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1596	0.81693	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEO1	50029295	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	8.366000	0.90111	2.216000	0.71823	0.533000	0.62120	.		0.453	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	Intron	53	128	0	0	0	0	53	128				
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:59373350C>T	ENST00000557998.1	+	8	2451	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q722*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.Q722*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(2164-2166)CAG>TAG		ring finger protein 111							320.0	262.0	281.0					15																	59373350		2192	4291	6483	SO:0001587	stop_gained	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373350C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2164C>T	15.37:g.59373350C>T	ENSP00000452732:p.Gln722*					RNF111_uc002afs.2_Nonsense_Mutation_p.Q722*|RNF111_uc002aft.2_Nonsense_Mutation_p.Q722*|RNF111_uc002afu.2_Nonsense_Mutation_p.Q721*|RNF111_uc002afw.2_Nonsense_Mutation_p.Q722*|RNF111_uc002afx.2_Nonsense_Mutation_p.Q248*	p.Q722*	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2443	+			722			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	ENST00000557998.1	37	c.2164C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	44	11.107843	0.99517	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.55	5.55	0.83447	.	0.055843	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.2323	19.5183	0.95174	0.0:1.0:0.0:0.0	.	.	.	.	X	722	.	ENSP00000288199:Q722X	Q	+	1	0	RNF111	57160642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.613000	0.88420	0.467000	0.42956	CAG		0.502	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		48	91	0	0	0	0	48	91				
RORA	6095	broad.mit.edu	37	15	60795042	60795042	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:60795042C>T	ENST00000335670.6	-	8	1200	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K	RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.R400K|RORA_ENST00000309157.4_Missense_Mutation_p.R392K|RP11-219B17.1_ENST00000501579.2_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.R312K|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	367	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						ACGGCACATTCTGATAAACAC	0.458																																						uc002agv.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1198-1200)AGA>AAA		RAR-related orphan receptor A isoform b							238.0	216.0	224.0					15																	60795042		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60795042C>T	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1100G>A	15.37:g.60795042C>T	ENSP00000335087:p.Arg367Lys					uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R312K|RORA_uc002agw.2_Missense_Mutation_p.R392K|RORA_uc002agx.2_Missense_Mutation_p.R367K	p.R400K	NM_134260	NP_599022	P35398	RORA_HUMAN			9	1355	-			400			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.1199G>A	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958606	0.97145	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.5	5.5	0.81552	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.97110	0.99;0.981;1.0;0.995	D	0.99000	1.0811	10	0.56958	D	0.05	.	19.7739	0.96383	0.0:1.0:0.0:0.0	.	367;392;400;312	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	K	367;312;392;400	ENSP00000335087:R367K;ENSP00000402971:R312K;ENSP00000309753:R392K;ENSP00000261523:R400K	ENSP00000261523:R400K	R	-	2	0	RORA	58582334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.744000	0.94065	0.655000	0.94253	AGA		0.458	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			104	172	0	0	0	0	104	172				
MYO9A	4649	broad.mit.edu	37	15	72154892	72154892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:72154892C>T	ENST00000356056.5	-	33	6512	c.6040G>A	c.(6040-6042)Gaa>Aaa	p.E2014K	MYO9A_ENST00000444904.1_Missense_Mutation_p.E1995K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2085K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E2014K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2014	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAACAGTATTCACAGTATGTA	0.358																																						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6040-6042)GAA>AAA		myosin IXA							155.0	152.0	153.0					15																	72154892		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72154892C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6040G>A	15.37:g.72154892C>T	ENSP00000348349:p.Glu2014Lys					MYO9A_uc002atk.2_Missense_Mutation_p.E809K	p.E2014K	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			33	6513	-			2014			Tail.|Phorbol-ester/DAG-type 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6040G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756059	0.89843	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.19250	2.16;2.16;2.16	5.53	5.53	0.82687	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	.	.	.	.	T	0.35128	0.0921	M	0.86097	2.795	0.80722	D	1	P	0.50066	0.931	B	0.41332	0.354	T	0.49283	-0.8956	9	0.87932	D	0	.	19.4541	0.94880	0.0:1.0:0.0:0.0	.	2014	B2RTY4	MYO9A_HUMAN	K	2014;2085;1995	ENSP00000348349:E2014K;ENSP00000399162:E2085K;ENSP00000398250:E1995K	ENSP00000348349:E2014K	E	-	1	0	MYO9A	69941946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.586000	0.87340	0.591000	0.81541	GAA		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		31	41	0	0	0	0	31	41				
IREB2	3658	broad.mit.edu	37	15	78783062	78783062	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:78783062C>G	ENST00000258886.8	+	18	2432	c.2283C>G	c.(2281-2283)atC>atG	p.I761M		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	761					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CAGGAAGTATCGCTAGGAATA	0.398																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NA																	0					0						c.(2281-2283)ATC>ATG		iron-responsive element binding protein 2							195.0	199.0	198.0					15																	78783062		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78783062C>G	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2283C>G	15.37:g.78783062C>G	ENSP00000258886:p.Ile761Met					IREB2_uc010unb.1_Missense_Mutation_p.I511M	p.I761M	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	18	2445	+			761					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.2283C>G	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449469	0.63178	.	.	ENSG00000136381	ENST00000258886	T	0.28255	1.62	6.07	-5.45	0.02616	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.77365	-0.2615	10	0.87932	D	0	-14.0487	16.5189	0.84308	0.0:0.3072:0.0:0.6928	.	761	P48200	IREB2_HUMAN	M	761	ENSP00000258886:I761M	ENSP00000258886:I761M	I	+	3	3	IREB2	76570117	0.176000	0.23096	0.280000	0.24747	0.992000	0.81027	-0.651000	0.05372	-0.828000	0.04273	0.650000	0.86243	ATC		0.398	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		85	151	0	0	0	0	85	151				
IL16	3603	broad.mit.edu	37	15	81592437	81592437	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:81592437C>T	ENST00000302987.4	+	13	2770	c.2770C>T	c.(2770-2772)Ccc>Tcc	p.P924S	IL16_ENST00000394652.2_Missense_Mutation_p.P223S|IL16_ENST00000394660.2_Missense_Mutation_p.P924S			Q14005	IL16_HUMAN	interleukin 16	924					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAGTCCCCTCCCCCAGGGCG	0.652																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2770-2772)CCC>TCC		interleukin 16 isoform 2							38.0	45.0	43.0					15																	81592437		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592437C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2770C>T	15.37:g.81592437C>T	ENSP00000302935:p.Pro924Ser					IL16_uc010blq.1_Missense_Mutation_p.P878S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P966S|IL16_uc002bgg.2_Missense_Mutation_p.P924S|IL16_uc002bgi.1_Missense_Mutation_p.P314S|IL16_uc002bgj.2_Missense_Mutation_p.P418S|IL16_uc002bgk.2_Missense_Mutation_p.P223S|IL16_uc002bgl.1_Missense_Mutation_p.P223S|IL16_uc010unq.1_Missense_Mutation_p.P223S	p.P924S	NM_172217	NP_757366	Q14005	IL16_HUMAN			14	3146	+			924					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2770C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121280	0.56613	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.09255	3.0;3.0;3.59	4.85	1.91	0.25777	.	0.311435	0.23353	N	0.049115	T	0.09642	0.0237	L	0.42245	1.32	0.09310	N	1	B;P;B;P;P;B	0.51057	0.169;0.941;0.002;0.78;0.518;0.307	B;P;B;B;B;B	0.47075	0.115;0.536;0.002;0.335;0.186;0.117	T	0.18618	-1.0331	10	0.16420	T	0.52	.	4.7144	0.12887	0.0:0.5444:0.1733:0.2823	.	756;417;461;314;924;924	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	924;756;924;461;314;223;223	ENSP00000378155:P924S;ENSP00000302935:P924S;ENSP00000378147:P223S	ENSP00000302935:P924S	P	+	1	0	IL16	79379492	0.006000	0.16342	0.264000	0.24511	0.742000	0.42306	0.601000	0.24119	0.459000	0.27016	0.655000	0.94253	CCC		0.652	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		36	42	0	0	0	0	36	42				
ALPK3	57538	broad.mit.edu	37	15	85399943	85399943	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr15:85399943G>A	ENST00000258888.5	+	6	2747	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	860					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGTGCACAGAAGGGCATGA	0.542																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(2578-2580)CAG>CAA		alpha-kinase 3							188.0	164.0	172.0					15																	85399943		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85399943G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2580G>A	15.37:g.85399943G>A							p.Q860Q	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	2747	+			860					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.2580G>A	CCDS10333.1																																																																																				0.542	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		15	32	0	0	0	0	15	32				
PDIA2	64714	broad.mit.edu	37	16	336596	336596	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:336596G>C	ENST00000219406.6	+	9	1301	c.1283G>C	c.(1282-1284)tGg>tCg	p.W428S	PDIA2_ENST00000404312.1_Missense_Mutation_p.W425S	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	428	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCCCTGCCTGGGAGGCATTG	0.627																																						uc002cgn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1282-1284)TGG>TCG		protein disulfide isomerase A2 precursor							46.0	51.0	50.0					16																	336596		2123	4229	6352	SO:0001583	missense	64714				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	g.chr16:336596G>C	U19948	CCDS42089.1	16p13.3	2009-11-20	2005-06-29	2005-03-03	ENSG00000185615	ENSG00000185615	5.3.4.1	"""Protein disulfide isomerases"""	14180	protein-coding gene	gene with protein product		608012	"""protein disulfide isomerase, pancreatic"", ""protein disulfide isomerase-associated 2"""	PDIP		8561901	Standard	NM_006849		Approved	PDA2, PDI, PDIR	uc002cgo.1	Q13087	OTTHUMG00000064891	ENST00000219406.6:c.1283G>C	16.37:g.336596G>C	ENSP00000219406:p.Trp428Ser					PDIA2_uc010bqt.1_Missense_Mutation_p.W273S|PDIA2_uc002cgo.1_Missense_Mutation_p.W428S	p.W428S	NM_006849	NP_006840	Q13087	PDIA2_HUMAN			14	2391	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	428			Thioredoxin 2.		A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95	Missense_Mutation	SNP	ENST00000219406.6	37	c.1283G>C	CCDS42089.1	.	.	.	.	.	.	.	.	.	.	g	19.73	3.881117	0.72294	.	.	ENSG00000185615	ENST00000219406;ENST00000455994;ENST00000404312;ENST00000435833	T;T;T	0.18016	2.24;2.24;3.95	4.58	4.58	0.56647	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68209	-0.5469	10	0.87932	D	0	.	16.156	0.81666	0.0:0.0:1.0:0.0	.	428	Q13087	PDIA2_HUMAN	S	428;397;425;57	ENSP00000219406:W428S;ENSP00000384410:W425S;ENSP00000405081:W57S	ENSP00000219406:W428S	W	+	2	0	PDIA2	276597	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	9.644000	0.98468	2.116000	0.64780	0.486000	0.48141	TGG		0.627	PDIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139315.3	NM_006849		17	36	0	0	0	0	17	36				
FBXL16	146330	broad.mit.edu	37	16	745766	745766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:745766G>T	ENST00000397621.1	-	3	1122	c.791C>A	c.(790-792)tCg>tAg	p.S264*	FBXL16_ENST00000562563.1_Nonsense_Mutation_p.S52*|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_Nonsense_Mutation_p.S264*	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	264										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGCAGCTGCGAGATGGCCGC	0.692																																						uc002cjc.2		NA																	0					0						c.(790-792)TCG>TAG		F-box and leucine-rich repeat protein 16							37.0	35.0	36.0					16																	745766		2199	4295	6494	SO:0001587	stop_gained	146330							g.chr16:745766G>T	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.791C>A	16.37:g.745766G>T	ENSP00000380746:p.Ser264*					FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Nonsense_Mutation_p.S52*	p.S264*	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			4	994	-		Hepatocellular(780;0.0218)	264			LRR 1.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Nonsense_Mutation	SNP	ENST00000397621.1	37	c.791C>A	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	37	6.060837	0.97246	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	16.3235	0.82964	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000318674:S264X	S	-	2	0	FBXL16	685767	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	9.548000	0.98103	2.427000	0.82271	0.561000	0.74099	TCG		0.692	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		7	20	1	0	0.000673444	0.000693706	7	20				
RPL3L	6123	broad.mit.edu	37	16	1996986	1996986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:1996986G>A	ENST00000268661.7	-	6	896	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	268					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCGGCCCGAGCAATGGAG	0.672																																						uc002cnh.2		NA																	0					0						c.(802-804)CGG>TGG		ribosomal protein L3-like							52.0	53.0	53.0					16																	1996986		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1996986G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.802C>T	16.37:g.1996986G>A	ENSP00000268661:p.Arg268Trp						p.R268W	NM_005061	NP_005052	Q92901	RL3L_HUMAN			6	849	-			268						Missense_Mutation	SNP	ENST00000268661.7	37	c.802C>T	CCDS10450.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686420	0.47991	.	.	ENSG00000140986	ENST00000268661	T	0.47869	0.83	4.92	3.93	0.45458	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79688	-0.1699	10	0.62326	D	0.03	-23.8907	13.6624	0.62374	0.0:0.0:0.8441:0.1559	.	268	Q92901	RL3L_HUMAN	W	268	ENSP00000268661:R268W	ENSP00000268661:R268W	R	-	1	2	RPL3L	1936987	1.000000	0.71417	0.995000	0.50966	0.215000	0.24574	6.633000	0.74286	1.131000	0.42111	0.655000	0.94253	CGG		0.672	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		31	69	0	0	0	0	31	69				
PKD1	5310	broad.mit.edu	37	16	2153846	2153846	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2153846C>G	ENST00000262304.4	-	23	8420	c.8212G>C	c.(8212-8214)Gag>Cag	p.E2738Q	PKD1_ENST00000423118.1_Missense_Mutation_p.E2738Q|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2738	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTCCCAGCTCTGAGGGCTGT	0.642																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(8212-8214)GAG>CAG		polycystin 1 isoform 1 precursor							16.0	16.0	16.0					16																	2153846		2167	4268	6435	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2153846C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8212G>C	16.37:g.2153846C>G	ENSP00000262304:p.Glu2738Gln					PKD1_uc002cot.1_Missense_Mutation_p.E2738Q|PKD1_uc010bse.1_RNA	p.E2738Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8421	-			2738			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.8212G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680127	0.29783	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.37235	1.21;1.21	4.24	4.24	0.50183	Egg jelly receptor, REJ-like (1);	0.786497	0.11678	N	0.540112	T	0.36991	0.0987	M	0.65975	2.015	0.09310	N	1	P;P	0.47841	0.901;0.604	B;B	0.41988	0.372;0.147	T	0.19192	-1.0313	10	0.25106	T	0.35	.	10.4806	0.44691	0.0:0.9102:0.0:0.0898	.	2738;2738	P98161-3;P98161	.;PKD1_HUMAN	Q	2738;2738;2073;1017	ENSP00000262304:E2738Q;ENSP00000399501:E2738Q	ENSP00000262304:E2738Q	E	-	1	0	PKD1	2093847	0.749000	0.28305	0.005000	0.12908	0.028000	0.11728	2.915000	0.48805	2.190000	0.69967	0.484000	0.47621	GAG		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	10	0	0	0	0	4	10				
ECI1	1632	broad.mit.edu	37	16	2296965	2296965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2296965C>G	ENST00000301729.4	-	3	236	c.189G>C	c.(187-189)aaG>aaC	p.K63N	ECI1_ENST00000562238.1_Missense_Mutation_p.K63N|ECI1_ENST00000570258.1_Missense_Mutation_p.K4N	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	63					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						CTGGGGGGTTCTTGAATTTCA	0.517																																						uc002cpr.2		NA																	0					0						c.(187-189)AAG>AAC		dodecenoyl-Coenzyme A delta isomerase precursor							34.0	34.0	34.0					16																	2296965		2198	4300	6498	SO:0001583	missense	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2296965C>G		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.189G>C	16.37:g.2296965C>G	ENSP00000301729:p.Lys63Asn					DCI_uc002cps.2_Missense_Mutation_p.K63N	p.K63N	NM_001919	NP_001910	P42126	ECI1_HUMAN			3	225	-			63					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	ENST00000301729.4	37	c.189G>C	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.613972	0.03690	.	.	ENSG00000167969	ENST00000301729	D	0.81821	-1.54	5.11	3.06	0.35304	Crotonase, core (1);	0.405345	0.29046	N	0.013301	T	0.49406	0.1555	N	0.02357	-0.585	0.36634	D	0.876472	B;B	0.12630	0.006;0.0	B;B	0.08055	0.003;0.001	T	0.52741	-0.8535	10	0.02654	T	1	-26.2589	7.4274	0.27107	0.0:0.5878:0.3255:0.0867	.	63;63	P42126-2;P42126	.;ECI1_HUMAN	N	63	ENSP00000301729:K63N	ENSP00000301729:K63N	K	-	3	2	ECI1	2236966	0.967000	0.33354	0.517000	0.27799	0.012000	0.07955	1.024000	0.30077	1.396000	0.46663	-0.150000	0.13652	AAG		0.517	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			12	25	0	0	0	0	12	25				
ABCA3	21	broad.mit.edu	37	16	2334310	2334310	+	Missense_Mutation	SNP	C	C	T	rs549548321		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2334310C>T	ENST00000301732.5	-	25	4532	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E1220K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1278					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCGGCGACCTCGGAGGAGGTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16688	0.0		0.0	False		,,,				2504	0.001					uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(3832-3834)GAG>AAG		ATP-binding cassette, sub-family A member 3							79.0	76.0	77.0					16																	2334310		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334310C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3832G>A	16.37:g.2334310C>T	ENSP00000301732:p.Glu1278Lys					ABCA3_uc010bsk.1_Missense_Mutation_p.E1220K	p.E1278K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			25	4544	-		Ovarian(90;0.17)	1278					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.3832G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528416	0.04112	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90261	-2.64	5.52	5.52	0.82312	.	0.744958	0.13061	N	0.416916	T	0.81432	0.4821	N	0.14661	0.345	0.28122	N	0.93056	B;B	0.14805	0.006;0.011	B;B	0.17098	0.017;0.009	T	0.62793	-0.6779	10	0.06494	T	0.89	.	13.7338	0.62804	0.0:0.8457:0.1543:0.0	.	1282;1278	Q4LE27;Q99758	.;ABCA3_HUMAN	K	1278;1282	ENSP00000301732:E1278K	ENSP00000301732:E1278K	E	-	1	0	ABCA3	2274311	0.000000	0.05858	0.200000	0.23457	0.460000	0.32559	0.164000	0.16542	2.586000	0.87340	0.655000	0.94253	GAG		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		22	34	0	0	0	0	22	34				
PRSS27	83886	broad.mit.edu	37	16	2764177	2764177	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:2764177G>C	ENST00000302641.3	-	4	451	c.397C>G	c.(397-399)Cca>Gca	p.P133A	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						AAGGGCACTGGTGCCTCCAGC	0.647																																						uc002crf.2		NA																	0				ovary(1)	1						c.(397-399)CCA>GCA		marapsin precursor							71.0	65.0	67.0					16																	2764177		2198	4300	6498	SO:0001583	missense	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764177G>C	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.397C>G	16.37:g.2764177G>C	ENSP00000306390:p.Pro133Ala					PRSS27_uc002cre.2_Missense_Mutation_p.P97A|PRSS27_uc002crg.2_Missense_Mutation_p.P31A|PRSS27_uc010bst.1_Missense_Mutation_p.P31A	p.P133A	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN			4	788	-			133			Peptidase S1.			Missense_Mutation	SNP	ENST00000302641.3	37	c.397C>G	CCDS10476.1	.	.	.	.	.	.	.	.	.	.	.	7.664	0.685584	0.14973	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.84516	-1.86	4.9	2.91	0.33838	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.264904	0.26944	N	0.021720	D	0.82779	0.5111	M	0.75264	2.295	0.34313	D	0.685647	B;B	0.29162	0.235;0.046	B;B	0.30029	0.103;0.11	T	0.82665	-0.0345	10	0.59425	D	0.04	.	8.1551	0.31165	0.0895:0.1599:0.7507:0.0	.	133;97	Q9BQR3;B3KP25	PRS27_HUMAN;.	A	133;97	ENSP00000306390:P133A	ENSP00000306390:P133A	P	-	1	0	PRSS27	2704178	0.983000	0.35010	0.004000	0.12327	0.196000	0.23810	2.159000	0.42339	0.474000	0.27392	0.462000	0.41574	CCA		0.647	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		23	26	0	0	0	0	23	26				
CREBBP	1387	broad.mit.edu	37	16	3779048	3779048	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:3779048C>T	ENST00000262367.5	-	31	6809	c.6000G>A	c.(5998-6000)ctG>ctA	p.L2000L	CREBBP_ENST00000382070.3_Silent_p.L1962L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2000					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGGCACATTCAGGCTCACGG	0.692			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5998-6000)CTG>CTA		CREB binding protein isoform a							15.0	16.0	15.0					16																	3779048		2186	4288	6474	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779048C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6000G>A	16.37:g.3779048C>T						CREBBP_uc002cvw.2_Silent_p.L1962L	p.L2000L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6204	-		Ovarian(90;0.0266)	2000					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.6000G>A	CCDS10509.1																																																																																				0.692	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	4	0	0	0	0	7	4				
LITAF	9516	broad.mit.edu	37	16	11643571	11643571	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11643571G>C	ENST00000571688.1	-	4	638	c.408C>G	c.(406-408)ttC>ttG	p.F136L	LITAF_ENST00000574763.1_Missense_Mutation_p.F136L|LITAF_ENST00000570904.1_Missense_Mutation_p.F136L|LITAF_ENST00000413364.2_3'UTR|LITAF_ENST00000381810.3_Missense_Mutation_p.L137V|LITAF_ENST00000576036.1_Missense_Mutation_p.F136L|LITAF_ENST00000572255.1_Missense_Mutation_p.F43L|LITAF_ENST00000571459.1_3'UTR|LITAF_ENST00000339430.5_Missense_Mutation_p.F136L	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	136					aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cytokine production (GO:0001817)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			endometrium(1)|large_intestine(1)|liver(1)|lung(3)|skin(1)	7						CATCCACGCAGAAGGGGATGA	0.582																																						uc002daz.2		NA																	0				liver(1)	1						c.(406-408)TTC>TTG		lipopolysaccharide-induced TNF-alpha factor							57.0	49.0	51.0					16																	11643571		2197	4300	6497	SO:0001583	missense	9516				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|lysosomal membrane	signal transducer activity|WW domain binding	g.chr16:11643571G>C	AB034747	CCDS32386.1, CCDS45411.1	16p13.3-p12	2014-09-17							16841	protein-coding gene	gene with protein product		603795				9305847, 10200294	Standard	NM_004862		Approved	PIG7, SIMPLE, FLJ38636, TP53I7	uc002dbb.3	Q99732		ENST00000571688.1:c.408C>G	16.37:g.11643571G>C	ENSP00000459533:p.Phe136Leu					LITAF_uc002dba.2_3'UTR|LITAF_uc002dbb.2_Missense_Mutation_p.F136L|LITAF_uc002dbc.2_Missense_Mutation_p.F136L|LITAF_uc002dbd.2_Missense_Mutation_p.F136L	p.F136L	NM_004862	NP_004853	Q99732	LITAF_HUMAN			4	641	-			136					D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	ENST00000571688.1	37	c.408C>G	CCDS32386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.123331|4.123331	0.77436|0.77436	.|.	.|.	ENSG00000189067|ENSG00000189067	ENST00000339430|ENST00000381810	D|D	0.87491|0.86562	-2.26|-2.14	5.01|5.01	0.682|0.682	0.17992|0.17992	LPS-induced tumor necrosis factor alpha factor (2);|.	.|0.293053	.|0.18676	.|N	.|0.134295	D|D	0.83691|0.83691	0.5309|0.5309	L|L	0.54323|0.54323	1.7|1.7	0.22880|0.22880	N|N	0.998612|0.998612	D|.	0.76494|.	0.999|.	D|.	0.74674|.	0.984|.	T|T	0.75184|0.75184	-0.3407|-0.3407	9|8	0.45353|0.62326	T|D	0.12|0.03	-6.6012|-6.6012	4.2386|4.2386	0.10637|0.10637	0.3498:0.1639:0.4863:0.0|0.3498:0.1639:0.4863:0.0	.|.	136|.	Q99732|.	LITAF_HUMAN|.	L|V	136|137	ENSP00000340118:F136L|ENSP00000371231:L137V	ENSP00000340118:F136L|ENSP00000371231:L137V	F|L	-|-	3|1	2|2	LITAF|LITAF	11551072|11551072	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.986000|0.986000	0.74619|0.74619	1.278000|1.278000	0.33179|0.33179	0.215000|0.215000	0.20761|0.20761	0.643000|0.643000	0.83706|0.83706	TTC|CTG		0.582	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		11	13	0	0	0	0	11	13				
TXNDC11	51061	broad.mit.edu	37	16	11773491	11773491	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:11773491C>T	ENST00000356957.3	-	13	2625	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.E813K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	840					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCTTATTTCTGCTCTCAGT	0.597																																						uc010buu.1		NA																	0					0						c.(2518-2520)GAA>AAA		thioredoxin domain containing 11							71.0	64.0	67.0					16																	11773491		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11773491C>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2518G>A	16.37:g.11773491C>T	ENSP00000349439:p.Glu840Lys					TXNDC11_uc002dbg.1_Missense_Mutation_p.E813K	p.E840K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			13	2580	-			840			Potential.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.2518G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.361929	0.95877	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.17528	2.51;2.27	5.63	5.63	0.86233	.	0.056353	0.64402	D	0.000001	T	0.44138	0.1279	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.85130	0.933;0.997	T	0.23190	-1.0195	10	0.56958	D	0.05	-35.2311	18.6978	0.91607	0.0:1.0:0.0:0.0	.	840;813	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	K	840;813	ENSP00000349439:E840K;ENSP00000283033:E813K	ENSP00000283033:E813K	E	-	1	0	TXNDC11	11680992	0.970000	0.33590	0.032000	0.17829	0.991000	0.79684	3.556000	0.53734	2.652000	0.90054	0.655000	0.94253	GAA		0.597	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		20	39	0	0	0	0	20	39				
MYH11	4629	broad.mit.edu	37	16	15917115	15917115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:15917115G>A	ENST00000300036.5	-	3	608	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q167*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.Q167*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q167*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	167	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CACTCACCTTGAAGCATGCTC	0.592			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(499-501)CAA>TAA		smooth muscle myosin heavy chain 11 isoform							146.0	105.0	119.0					16																	15917115		2197	4300	6497	SO:0001587	stop_gained	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15917115G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.499C>T	16.37:g.15917115G>A	ENSP00000300036:p.Gln167*					MYH11_uc002ddv.2_Nonsense_Mutation_p.Q167*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q167*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q167*|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Nonsense_Mutation_p.Q167*	p.Q167*	NM_002474	NP_002465	P35749	MYH11_HUMAN			3	606	-			167			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.499C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	39	7.356882	0.98235	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.557	0.91089	0.0:0.0:1.0:0.0	.	.	.	.	X	167	.	ENSP00000300036:Q167X	Q	-	1	0	MYH11	15824616	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.751000	0.98889	2.626000	0.88956	0.655000	0.94253	CAA		0.592	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		25	51	0	0	0	0	25	51				
DNAH3	55567	broad.mit.edu	37	16	20952835	20952835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:20952835G>C	ENST00000261383.3	-	59	11541	c.11542C>G	c.(11542-11544)Ctc>Gtc	p.L3848V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3848					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTTGGAGAGAATGTCTTGT	0.478																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(11542-11544)CTC>GTC		dynein, axonemal, heavy chain 3							140.0	130.0	134.0					16																	20952835		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20952835G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11542C>G	16.37:g.20952835G>C	ENSP00000261383:p.Leu3848Val					DNAH3_uc010vbd.1_Missense_Mutation_p.L1283V	p.L3848V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	59	11542	-			3848					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11542C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171360	0.78452	.	.	ENSG00000158486	ENST00000261383	T	0.09350	2.99	5.79	4.83	0.62350	Dynein heavy chain (1);	0.082064	0.49916	D	0.000130	T	0.41627	0.1167	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53528	-0.8426	10	0.59425	D	0.04	.	14.7613	0.69607	0.0691:0.0:0.9309:0.0	.	3848	Q8TD57	DYH3_HUMAN	V	3848	ENSP00000261383:L3848V	ENSP00000261383:L3848V	L	-	1	0	DNAH3	20860336	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	2.670000	0.46833	1.454000	0.47793	0.655000	0.94253	CTC		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		56	151	0	0	0	0	56	151				
ARHGAP17	55114	broad.mit.edu	37	16	24950913	24950913	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:24950913C>G	ENST00000289968.6	-	17	1565	c.1496G>C	c.(1495-1497)gGt>gCt	p.G499A	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	499					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGCTTCACACCAAAGCTACA	0.537																																						uc002dnb.2		NA																	0					0						c.(1495-1497)GGT>GCT		nadrin isoform 1							34.0	25.0	28.0					16																	24950913		2195	4300	6495	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24950913C>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1496G>C	16.37:g.24950913C>G	ENSP00000289968:p.Gly499Ala					ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Missense_Mutation_p.G23A|ARHGAP17_uc002dna.2_Missense_Mutation_p.G226A|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	p.G499A	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	17	1589	-			499					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1496G>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759830	0.49468	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.22539	1.95	5.0	5.0	0.66597	.	0.000000	0.45361	D	0.000370	T	0.32912	0.0845	M	0.64997	1.995	0.80722	D	1	B;P	0.46784	0.15;0.884	B;P	0.50270	0.027;0.636	T	0.01591	-1.1317	10	0.26408	T	0.33	.	15.8573	0.78989	0.0:1.0:0.0:0.0	.	499;32	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	A	499	ENSP00000289968:G499A	ENSP00000289968:G499A	G	-	2	0	ARHGAP17	24858414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.836000	0.62789	2.595000	0.87683	0.655000	0.94253	GGT		0.537	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		15	9	0	0	0	0	15	9				
HIRIP3	8479	broad.mit.edu	37	16	30006744	30006744	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:30006744G>T	ENST00000279392.3	-	2	936	c.106C>A	c.(106-108)Cac>Aac	p.H36N	HIRIP3_ENST00000564026.1_Missense_Mutation_p.H36N|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron|INO80E_ENST00000567705.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	36					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CGGCCCGAGTGAGCTAAGTAC	0.662																																						uc002dve.2		NA																	0				central_nervous_system(1)	1						c.(106-108)CAC>AAC		HIRA interacting protein 3							38.0	41.0	40.0					16																	30006744		2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30006744G>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.106C>A	16.37:g.30006744G>T	ENSP00000279392:p.His36Asn					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.H36N	p.H36N	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			2	567	-			36					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.106C>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862052	0.51482	.	.	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.37915	1.17	5.45	0.175	0.15045	.	0.211367	0.39687	N	0.001284	T	0.27313	0.0670	M	0.61703	1.905	0.25561	N	0.986998	B;P	0.42827	0.281;0.791	B;B	0.38428	0.075;0.273	T	0.15780	-1.0425	10	0.27082	T	0.32	-4.0499	5.5804	0.17247	0.3075:0.1342:0.5583:0.0	.	36;36	B2R6A9;Q9BW71	.;HIRP3_HUMAN	N	36	ENSP00000279392:H36N	ENSP00000279392:H36N	H	-	1	0	HIRIP3	29914245	1.000000	0.71417	0.358000	0.25811	0.125000	0.20455	1.575000	0.36493	-0.064000	0.13043	0.650000	0.86243	CAC		0.662	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		19	52	1	0	8.28e-16	9.06e-16	19	52				
N4BP1	9683	broad.mit.edu	37	16	48595137	48595137	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595137C>T	ENST00000262384.3	-	2	1653	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	473					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CCCCAGACTTCATGTTTCTGT	0.383																																						uc002efp.2		NA																	0					0						c.(1417-1419)GAA>AAA		Nedd4 binding protein 1							122.0	122.0	122.0					16																	48595137		1880	4097	5977	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595137C>T	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1417G>A	16.37:g.48595137C>T	ENSP00000262384:p.Glu473Lys						p.E473K	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	1654	-		all_cancers(37;0.179)|all_lung(18;0.11)	473					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.1417G>A	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658452	0.29425	.	.	ENSG00000102921	ENST00000262384	T	0.46063	0.88	6.08	5.13	0.70059	.	0.951216	0.08799	N	0.892058	T	0.31949	0.0813	L	0.29908	0.895	0.26371	N	0.9769	P	0.35433	0.501	B	0.28139	0.086	T	0.10800	-1.0614	10	0.15066	T	0.55	-4.2756	15.7047	0.77569	0.0:0.9345:0.0:0.0655	.	473	O75113	N4BP1_HUMAN	K	473	ENSP00000262384:E473K	ENSP00000262384:E473K	E	-	1	0	N4BP1	47152638	0.996000	0.38824	0.751000	0.31187	0.107000	0.19398	3.101000	0.50283	1.586000	0.49944	0.591000	0.81541	GAA		0.383	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		30	58	0	0	0	0	30	58				
N4BP1	9683	broad.mit.edu	37	16	48595296	48595296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:48595296C>A	ENST00000262384.3	-	2	1494	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	420					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTTGTAAGCTCATTTGTGCTG	0.363																																						uc002efp.2		NA																	0					0						c.(1258-1260)GAG>TAG		Nedd4 binding protein 1							79.0	73.0	75.0					16																	48595296		1849	4095	5944	SO:0001587	stop_gained	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595296C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1258G>T	16.37:g.48595296C>A	ENSP00000262384:p.Glu420*						p.E420*	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	1495	-		all_cancers(37;0.179)|all_lung(18;0.11)	420					A7MD49|Q2YDX1	Nonsense_Mutation	SNP	ENST00000262384.3	37	c.1258G>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530126	0.85706	.	.	ENSG00000102921	ENST00000262384	.	.	.	6.17	5.22	0.72569	.	0.437819	0.23108	N	0.051823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-10.3328	10.6922	0.45877	0.0:0.7555:0.1708:0.0737	.	.	.	.	X	420	.	ENSP00000262384:E420X	E	-	1	0	N4BP1	47152797	0.596000	0.26866	0.100000	0.21137	0.283000	0.27025	2.227000	0.42972	2.941000	0.99782	0.655000	0.94253	GAG		0.363	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		27	40	1	0	7.42e-09	7.89e-09	27	40				
ADCY7	113	broad.mit.edu	37	16	50325658	50325658	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:50325658C>T	ENST00000394697.2	+	4	727	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000538642.1_Silent_p.F129F|ADCY7_ENST00000537579.1_Silent_p.F129F|ADCY7_ENST00000254235.3_Silent_p.F129F|ADCY7_ENST00000566433.2_Silent_p.F129F			P51828	ADCY7_HUMAN	adenylate cyclase 7	129					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGCCCTTCTTCCTGTTCATTG	0.657																																						uc002egd.1		NA																	0				skin(1)	1						c.(385-387)TTC>TTT		adenylate cyclase 7	Bromocriptine(DB01200)						95.0	94.0	94.0					16																	50325658		2198	4300	6498	SO:0001819	synonymous_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50325658C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.387C>T	16.37:g.50325658C>T						ADCY7_uc002egb.1_Silent_p.F129F|ADCY7_uc002egc.1_Silent_p.F129F	p.F129F	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	3	655	+		all_cancers(37;0.0127)	129			Helical; (Potential).		A0AVA6	Silent	SNP	ENST00000394697.2	37	c.387C>T	CCDS10741.1																																																																																				0.657	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			4	19	0	0	0	0	4	19				
SALL1	6299	broad.mit.edu	37	16	51174620	51174620	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:51174620G>C	ENST00000251020.4	-	2	1546	c.1513C>G	c.(1513-1515)Cat>Gat	p.H505D	SALL1_ENST00000440970.1_Missense_Mutation_p.H408D|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	505					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATCTGGATATGAGGGTATTTC	0.512																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1513-1515)CAT>GAT		sal-like 1 isoform a							110.0	105.0	107.0					16																	51174620		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174620G>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1513C>G	16.37:g.51174620G>C	ENSP00000251020:p.His505Asp					SALL1_uc010vgr.1_Missense_Mutation_p.H408D|SALL1_uc010cbv.2_Intron	p.H505D	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1544	-		all_cancers(37;0.0322)	505					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1513C>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566615	0.65651	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09630	2.98;2.96	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.34179	-0.9839	10	0.72032	D	0.01	-15.6643	18.9361	0.92586	0.0:0.0:1.0:0.0	.	505	Q9NSC2	SALL1_HUMAN	D	505;408;469	ENSP00000251020:H505D;ENSP00000407914:H408D	ENSP00000251020:H505D	H	-	1	0	SALL1	49732121	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	9.869000	0.99810	2.458000	0.83093	0.563000	0.77884	CAT		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		41	74	0	0	0	0	41	74				
BBS2	583	broad.mit.edu	37	16	56536599	56536599	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:56536599G>A	ENST00000245157.5	-	8	1346	c.926C>T	c.(925-927)tCa>tTa	p.S309L	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.S309L	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	309					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCCATCCACTGAGCAGCAGAT	0.408									Bardet-Biedl syndrome																													uc002ejd.2		NA																	0				ovary(1)	1						c.(925-927)TCA>TTA		Bardet-Biedl syndrome 2 protein							134.0	128.0	130.0					16																	56536599		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56536599G>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.926C>T	16.37:g.56536599G>A	ENSP00000245157:p.Ser309Leu					BBS2_uc010ccg.2_Missense_Mutation_p.S309L	p.S309L	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			8	1160	-			309					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.926C>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469139	0.96274	.	.	ENSG00000125124	ENST00000245157	D	0.93712	-3.27	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055933	0.85682	D	0.000000	D	0.95513	0.8542	M	0.77820	2.39	0.80722	D	1	P;P	0.44816	0.844;0.844	P;P	0.49683	0.619;0.619	D	0.95363	0.8457	10	0.72032	D	0.01	-4.3191	20.3206	0.98668	0.0:0.0:1.0:0.0	.	309;309	A8K0N9;Q9BXC9	.;BBS2_HUMAN	L	309	ENSP00000245157:S309L	ENSP00000245157:S309L	S	-	2	0	BBS2	55094100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.803000	0.99136	2.813000	0.96785	0.561000	0.74099	TCA		0.408	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		43	86	0	0	0	0	43	86				
RSPRY1	89970	broad.mit.edu	37	16	57238671	57238671	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57238671G>A	ENST00000537866.1	+	2	974	c.101G>A	c.(100-102)gGa>gAa	p.G34E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G34E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	34						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTAGGGACTGGAGGTGCCGCT	0.532																																						uc002elb.2		NA																	0				ovary(1)	1						c.(100-102)GGA>GAA		ring finger and SPRY domain containing 1							181.0	181.0	181.0					16																	57238671		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238671G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.101G>A	16.37:g.57238671G>A	ENSP00000443176:p.Gly34Glu					RSPRY1_uc002elc.2_Missense_Mutation_p.G34E|RSPRY1_uc002eld.2_Missense_Mutation_p.G34E|RSPRY1_uc002ele.1_Missense_Mutation_p.G34E	p.G34E	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			2	379	+			34					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.101G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	0.481	-0.879954	0.02530	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84442	-1.85;-1.85	5.27	-0.546	0.11840	.	0.747104	0.13586	N	0.376995	T	0.63977	0.2557	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51132	-0.8744	10	0.33940	T	0.23	.	2.8788	0.05640	0.0849:0.2159:0.2556:0.4437	.	34;34	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	E	34	ENSP00000377942:G34E;ENSP00000443176:G34E	ENSP00000377942:G34E	G	+	2	0	RSPRY1	55796172	0.998000	0.40836	0.977000	0.42913	0.622000	0.37654	2.116000	0.41930	0.286000	0.22352	0.655000	0.94253	GGA		0.532	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		88	131	0	0	0	0	88	131				
CNGB1	1258	broad.mit.edu	37	16	57954370	57954370	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:57954370G>C	ENST00000251102.8	-	19	1782	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	CNGB1_ENST00000564448.1_Silent_p.L568L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	574					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCTCCTTGAAGAGCTTCACCA	0.592																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(1720-1722)CTC>CTG		cyclic nucleotide gated channel beta 1 isoform							80.0	86.0	84.0					16																	57954370		1985	4177	6162	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57954370G>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1722C>G	16.37:g.57954370G>C						CNGB1_uc010cdh.2_Silent_p.L568L	p.L574L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			19	1787	-			574			IQ-like.|Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.1722C>G	CCDS42169.1																																																																																				0.592	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		40	40	0	0	0	0	40	40				
CCDC113	29070	broad.mit.edu	37	16	58301439	58301439	+	Silent	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:58301439G>T	ENST00000219299.4	+	7	919	c.840G>T	c.(838-840)ctG>ctT	p.L280L	CCDC113_ENST00000443128.2_Silent_p.L226L	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	280						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGATCTTGCTGAGAAAAGAGC	0.383																																						uc002ene.2		NA																	0					0						c.(838-840)CTG>CTT		coiled-coil domain containing 113 isoform 1							92.0	88.0	90.0					16																	58301439		2198	4300	6498	SO:0001819	synonymous_variant	29070					protein complex		g.chr16:58301439G>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.840G>T	16.37:g.58301439G>T						CCDC113_uc010vid.1_Silent_p.L226L	p.L280L	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			7	919	+			280			Potential.		B2RAQ7|B4DR20|Q9NZX2	Silent	SNP	ENST00000219299.4	37	c.840G>T	CCDS10795.1																																																																																				0.383	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		32	53	1	0	1.56e-22	1.74e-22	32	53				
CMTM2	146225	broad.mit.edu	37	16	66620961	66620961	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:66620961G>C	ENST00000268595.2	+	3	657	c.506G>C	c.(505-507)aGa>aCa	p.R169T	CMTM2_ENST00000379486.2_Missense_Mutation_p.R116T	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	169	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TTTGCTGTGAGAAGTCGGCGA	0.517																																						uc002ept.2		NA																	0				ovary(1)	1						c.(505-507)AGA>ACA		chemokine-like factor superfamily 2							259.0	195.0	217.0					16																	66620961		2201	4300	6501	SO:0001583	missense	146225				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66620961G>C	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.506G>C	16.37:g.66620961G>C	ENSP00000268595:p.Arg169Thr					CMTM2_uc010cdu.2_Missense_Mutation_p.R116T	p.R169T	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)	3	666	+		Ovarian(137;0.0563)	169			MARVEL.		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	c.506G>C	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757261	0.49468	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.47528	0.84;1.55	4.05	-8.1	0.01086	Marvel (1);	1.278280	0.05365	N	0.534425	T	0.28333	0.0700	L	0.43152	1.355	0.09310	N	1	B;B	0.24823	0.112;0.112	B;B	0.20184	0.028;0.028	T	0.15954	-1.0419	10	0.28530	T	0.3	-0.2633	0.2342	0.00184	0.2643:0.2418:0.2542:0.2397	.	116;169	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	T	116;169	ENSP00000368800:R116T;ENSP00000268595:R169T	ENSP00000268595:R169T	R	+	2	0	CMTM2	65178462	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.863000	0.00725	-1.583000	0.01638	-0.314000	0.08810	AGA		0.517	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			37	85	0	0	0	0	37	85				
CES4A	283848	broad.mit.edu	37	16	67042973	67042973	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67042973C>G	ENST00000326686.5	+	14	1614	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	CES4A_ENST00000541479.1_Silent_p.L491L|CES4A_ENST00000540579.1_Silent_p.L440L|CES4A_ENST00000398354.1_Silent_p.L468L|CES4A_ENST00000535696.1_3'UTR|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000540947.2_3'UTR|CES4A_ENST00000338718.4_3'UTR			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	538						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCATGAAGCTCAAGGAGAAGA	0.493																																						uc002eqv.2		NA																	0					0						c.(1402-1404)CTC>CTG		carboxylesterase 8 (putative)							161.0	157.0	158.0					16																	67042973		1955	4145	6100	SO:0001819	synonymous_variant	283848					extracellular region	carboxylesterase activity	g.chr16:67042973C>G	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1614C>G	16.37:g.67042973C>G						CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.L440L|CES8_uc002eqx.2_Silent_p.L344L|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.L440L|CES8_uc002eqz.2_RNA	p.L468L	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN			12	1447	+			538					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	ENST00000326686.5	37	c.1404C>G																																																																																					0.493	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		64	132	0	0	0	0	64	132				
CENPT	80152	broad.mit.edu	37	16	67861873	67861873	+	IGR	SNP	C	C	G	rs375957094		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67861873C>G	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.R652G|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R637G|CENPT_ENST00000562947.1_5'Flank|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R706G	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGTGGGACCTCGAGAGCCAGA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17066	0.001		0.0	False		,,,				2504	0.0					uc002euj.2		NA																	0					0						c.(1954-1956)CGA>GGA		translin-associated factor X interacting protein							76.0	88.0	84.0					16																	67861873		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67861873C>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67861873C>G						TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Missense_Mutation_p.R706G|TSNAXIP1_uc010vkb.1_Missense_Mutation_p.R637G|TSNAXIP1_uc002eug.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002euh.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002eui.3_Missense_Mutation_p.R360G|TSNAXIP1_uc002euk.2_Missense_Mutation_p.R385G	p.R652G	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	16	2348	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	652					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.1954C>G	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480480	0.63849	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	.	.	.	5.93	3.95	0.45737	.	0.401642	0.23939	N	0.043073	T	0.55337	0.1914	L	0.57536	1.79	0.28639	N	0.907268	D;D;D;D	0.89917	1.0;1.0;0.999;0.993	D;D;D;D	0.70935	0.971;0.971;0.971;0.927	T	0.51553	-0.8691	9	0.72032	D	0.01	-10.5549	7.8158	0.29258	0.1714:0.747:0.0:0.0817	.	637;706;360;652	E7ENJ7;B4DXD0;Q2TAA8-2;Q2TAA8	.;.;.;TXIP1_HUMAN	G	637;652	.	ENSP00000373485:R652G	R	+	1	2	TSNAXIP1	66419374	0.102000	0.21896	0.436000	0.26797	0.169000	0.22640	1.386000	0.34419	0.803000	0.34113	-0.397000	0.06425	CGA		0.537	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		36	74	0	0	0	0	36	74				
LCAT	3931	broad.mit.edu	37	16	67974294	67974294	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67974294G>C	ENST00000264005.5	-	6	865	c.836C>G	c.(835-837)tCt>tGt	p.S279C		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	279					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CGCCATGCGAGAGGGAAACAT	0.552																																						uc002euy.1		NA																	0					0						c.(835-837)TCT>TGT		lecithin-cholesterol acyltransferase precursor							140.0	122.0	128.0					16																	67974294		2198	4300	6498	SO:0001583	missense	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67974294G>C		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.836C>G	16.37:g.67974294G>C	ENSP00000264005:p.Ser279Cys						p.S279C	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	6	847	-		Ovarian(137;0.0563)	279					Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	c.836C>G	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386313	0.61956	.	.	ENSG00000213398	ENST00000264005	D	0.96041	-3.89	5.88	4.92	0.64577	.	0.155891	0.43919	U	0.000503	D	0.97117	0.9058	M	0.87827	2.91	0.09310	N	1	P	0.49783	0.928	P	0.56398	0.797	D	0.93029	0.6447	10	0.66056	D	0.02	-25.3722	11.9766	0.53096	0.0:0.0:0.6849:0.3151	.	279	P04180	LCAT_HUMAN	C	279	ENSP00000264005:S279C	ENSP00000264005:S279C	S	-	2	0	LCAT	66531795	0.975000	0.34042	0.003000	0.11579	0.810000	0.45777	4.710000	0.61873	1.464000	0.47987	0.555000	0.69702	TCT		0.552	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			34	76	0	0	0	0	34	76				
SLC12A4	6560	broad.mit.edu	37	16	67985730	67985730	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:67985730G>C	ENST00000316341.3	-	8	1268	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	SLC12A4_ENST00000576616.1_Silent_p.L376L|SLC12A4_ENST00000537830.2_Silent_p.L370L|SLC12A4_ENST00000338335.3_Silent_p.L376L|SLC12A4_ENST00000572037.1_Silent_p.L328L|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Silent_p.L378L|SLC12A4_ENST00000541864.2_Silent_p.L345L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	376					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACCCACCCTGGAGCACACCAG	0.632																																						uc002euz.2		NA																	0				ovary(1)	1						c.(1126-1128)CTC>CTG		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						50.0	35.0	40.0					16																	67985730		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985730G>C		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1128C>G	16.37:g.67985730G>C						SLC12A4_uc010ceu.2_Silent_p.L370L|SLC12A4_uc010vkh.1_Silent_p.L345L|SLC12A4_uc010vki.1_Silent_p.L376L|SLC12A4_uc010vkj.1_Silent_p.L378L|SLC12A4_uc002eva.2_Silent_p.L376L|SLC12A4_uc002evb.2_RNA	p.L376L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	8	1269	-		Ovarian(137;0.192)	376			Helical; (Potential).		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.1128C>G	CCDS10855.1																																																																																				0.632	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		8	14	0	0	0	0	8	14				
NFATC3	4775	broad.mit.edu	37	16	68217146	68217146	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:68217146C>G	ENST00000346183.3	+	8	1999	c.1975C>G	c.(1975-1977)Cac>Gac	p.H659D	NFATC3_ENST00000349223.5_Missense_Mutation_p.H659D|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H659D|NFATC3_ENST00000575270.1_Missense_Mutation_p.H659D	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	659					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCCTTAGGCTCACATTGTCCT	0.418																																						uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1975-1977)CAC>GAC		nuclear factor of activated T-cells,							221.0	199.0	206.0					16																	68217146		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68217146C>G	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1975C>G	16.37:g.68217146C>G	ENSP00000300659:p.His659Asp					NFATC3_uc010vkl.1_Missense_Mutation_p.H180D|NFATC3_uc010vkm.1_Missense_Mutation_p.H180D|NFATC3_uc010vkn.1_Missense_Mutation_p.H180D|NFATC3_uc010vko.1_Missense_Mutation_p.H180D|NFATC3_uc010vkp.1_Missense_Mutation_p.H180D|NFATC3_uc010vkq.1_Missense_Mutation_p.H180D|NFATC3_uc002evl.2_Missense_Mutation_p.H180D|NFATC3_uc002evk.2_Missense_Mutation_p.H659D|NFATC3_uc002evm.1_Missense_Mutation_p.H659D|NFATC3_uc002evn.1_Missense_Mutation_p.H659D|NFATC3_uc010vkr.1_Missense_Mutation_p.H180D|NFATC3_uc010vks.1_Missense_Mutation_p.H180D|NFATC3_uc010vkt.1_Missense_Mutation_p.H180D|NFATC3_uc010vku.1_Missense_Mutation_p.H180D|NFATC3_uc010vkv.1_Missense_Mutation_p.H180D|NFATC3_uc010vkw.1_Missense_Mutation_p.H180D|NFATC3_uc010vkx.1_Missense_Mutation_p.H180D|NFATC3_uc010vky.1_Missense_Mutation_p.H180D|NFATC3_uc010vkz.1_Missense_Mutation_p.H180D|NFATC3_uc010vla.1_Missense_Mutation_p.H180D|NFATC3_uc010vlb.1_Missense_Mutation_p.H180D|NFATC3_uc010vlc.1_Missense_Mutation_p.H180D	p.H659D	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	8	2185	+		Ovarian(137;0.0563)	659					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1975C>G	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317401	0.40996	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.09445	2.98;2.98;2.98	5.05	3.98	0.46160	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.130643	0.64402	D	0.000002	T	0.12178	0.0296	L	0.56199	1.76	0.37825	D	0.928515	B;B;B;B	0.28470	0.179;0.213;0.179;0.179	B;B;B;B	0.29862	0.025;0.108;0.036;0.036	T	0.05517	-1.0880	10	0.51188	T	0.08	-6.7895	10.6822	0.45821	0.4197:0.5803:0.0:0.0	.	659;659;659;659	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	D	659;659;659;180	ENSP00000264008:H659D;ENSP00000300659:H659D;ENSP00000331324:H659D	ENSP00000331324:H659D	H	+	1	0	NFATC3	66774647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.585000	0.53943	2.504000	0.84457	0.563000	0.77884	CAC		0.418	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		44	95	0	0	0	0	44	95				
ATP2C2	9914	broad.mit.edu	37	16	84444203	84444203	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:84444203C>T	ENST00000262429.4	+	5	536	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.F149F	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	149					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGTCGCCTTCATCCAGGTGA	0.582																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(445-447)TTC>TTT		ATPase, Ca++ transporting, type 2C, member 2							105.0	103.0	104.0					16																	84444203		2065	4218	6283	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84444203C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.447C>T	16.37:g.84444203C>T						ATP2C2_uc010chj.2_Silent_p.F149F|ATP2C2_uc002fhy.2_Silent_p.F166F|ATP2C2_uc002fhz.2_Missense_Mutation_p.S19L	p.F149F	NM_014861	NP_055676	O75185	AT2C2_HUMAN			5	536	+			149			Helical; Name=2; (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.447C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	2.406	-0.336449	0.05278	.	.	ENSG00000064270	ENST00000420010	.	.	.	4.57	3.61	0.41365	.	.	.	.	.	T	0.47525	0.1450	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.45659	-0.9246	7	0.72032	D	0.01	.	8.4587	0.32915	0.0:0.8899:0.0:0.1101	.	19	F8WAA5	.	L	19	.	ENSP00000393378:S19L	S	+	2	0	ATP2C2	83001704	1.000000	0.71417	0.999000	0.59377	0.128000	0.20619	1.458000	0.35223	0.918000	0.36919	0.585000	0.79938	TCA		0.582	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		46	38	0	0	0	0	46	38				
FBXO31	79791	broad.mit.edu	37	16	87369778	87369778	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:87369778G>C	ENST00000311635.7	-	6	837	c.825C>G	c.(823-825)atC>atG	p.I275M	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	275					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)		GACTGGTGTAGATGAACTTCA	0.617																																						uc002fjw.2		NA																	0				lung(1)	1						c.(823-825)ATC>ATG		F-box protein 31							194.0	139.0	158.0					16																	87369778		2198	4300	6498	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.chr16:87369778G>C	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.825C>G	16.37:g.87369778G>C	ENSP00000310841:p.Ile275Met					FBXO31_uc010vot.1_Missense_Mutation_p.I103M|FBXO31_uc002fjv.2_Missense_Mutation_p.I167M	p.I275M	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	6	869	-			275					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.825C>G	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004089	0.54254	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.62	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	N	0.11560	0.145	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.35400	-0.9790	9	0.27082	T	0.32	-10.7501	8.2483	0.31702	0.3046:0.0:0.6954:0.0	.	275;167	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	M	275	.	ENSP00000310841:I275M	I	-	3	3	FBXO31	85927279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.851000	0.39338	1.072000	0.40860	0.561000	0.74099	ATC		0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		12	17	0	0	0	0	12	17				
CBFA2T3	863	broad.mit.edu	37	16	88947816	88947816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr16:88947816C>T	ENST00000268679.4	-	9	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E353K|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E343K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E343K|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E391K	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	429	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.		E -> G (in dbSNP:rs1053526). {ECO:0000269|PubMed:9596646}.		cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TTGAGCTCCTCGCGGTCGGCC	0.736			T	RUNX1	AML																																	uc002fmm.1		NA		Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		0				large_intestine(3)|ovary(1)	4						c.(1285-1287)GAG>AAG		myeloid translocation gene on chromosome 16							11.0	13.0	13.0					16																	88947816		2177	4280	6457	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88947816C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1285G>A	16.37:g.88947816C>T	ENSP00000268679:p.Glu429Lys					CBFA2T3_uc002fml.1_Missense_Mutation_p.E343K|CBFA2T3_uc010cif.1_Missense_Mutation_p.E368K|CBFA2T3_uc002fmk.1_5'Flank	p.E429K	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	9	1471	-			429			Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1285G>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	37	5.986828	0.97173	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.21	5.21	0.72293	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.67953	2.075	0.80722	D	1	D;D;P	0.63880	0.961;0.993;0.956	B;P;P	0.61397	0.411;0.888;0.821	T	0.73036	-0.4109	10	0.72032	D	0.01	-11.6293	18.3553	0.90355	0.0:1.0:0.0:0.0	.	391;429;343	E7EU24;O75081;O75081-2	.;MTG16_HUMAN;.	K	343;429;391;353;343	ENSP00000332122:E343K;ENSP00000268679:E429K;ENSP00000395739:E391K;ENSP00000401254:E353K;ENSP00000353449:E343K	ENSP00000268679:E429K	E	-	1	0	CBFA2T3	87475317	1.000000	0.71417	0.987000	0.45799	0.880000	0.50808	7.244000	0.78228	2.434000	0.82447	0.555000	0.69702	GAG		0.736	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		6	3	0	0	0	0	6	3				
VPS53	55275	broad.mit.edu	37	17	463774	463775	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:463774_463775GA>AT	ENST00000571805.1	-	15	1731_1732	c.1595_1596TC>AT	c.(1594-1596)cTC>cAT	p.L532H	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.L503H|VPS53_ENST00000437048.2_Missense_Mutation_p.L532H|VPS53_ENST00000401468.3_Missense_Mutation_p.L255H|VPS53_ENST00000446250.2_Missense_Mutation_p.L334H|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	532					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTTCCTTGAGGAGGCTGCTGAT	0.495																																						uc002frn.2		NA																	0					0						c.(1594-1596)CTC>CAT		vacuolar protein sorting 53 isoform 2																																				SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:463774_463775GA>AT		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1595_1596delinsAT	17.37:g.463774_463775delinsAT	ENSP00000459312:p.Leu532His					VPS53_uc002frk.2_Missense_Mutation_p.L51H|VPS53_uc010cjo.1_Missense_Mutation_p.L532H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.L503H|VPS53_uc002fro.2_Missense_Mutation_p.L334H|VPS53_uc010cjp.1_Missense_Mutation_p.L255H	p.L532H	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	15	1742_1743	-			532					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	DNP	ENST00000571805.1	37	c.1595_1596TC>AT																																																																																					0.495	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		3	35	0	0	0	0	3	35				
GLOD4	51031	broad.mit.edu	37	17	685477	685477	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685477G>A	ENST00000301328.5	-	1	42	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GLOD4_ENST00000536578.1_5'UTR|RNMTL1_ENST00000304478.4_5'Flank|GLOD4_ENST00000301329.6_Silent_p.L7L			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	7						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGAAGTGCAGAGCTCTGCGA	0.667																																						uc002frv.2		NA																	0					0						c.(19-21)CTG>TTG		glyoxalase domain containing 4							28.0	30.0	29.0					17																	685477		2203	4298	6501	SO:0001819	synonymous_variant	51031					mitochondrion		g.chr17:685477G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.19C>T	17.37:g.685477G>A						GLOD4_uc002fru.2_Silent_p.L7L|GLOD4_uc010vqc.1_5'UTR|RNMTL1_uc002frw.2_5'Flank	p.L7L	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	95	-			7					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.19C>T																																																																																					0.667	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		8	8	0	0	0	0	8	8				
GLOD4	51031	broad.mit.edu	37	17	685930	685930	+	5'Flank	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:685930G>T	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Silent_p.L104L|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.L104L(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACAGGAGGCTGAGGTGATGTG	0.572																																						uc002frw.2		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(1)	1						c.(310-312)CTG>CTT		RNA methyltransferase like 1							25.0	24.0	25.0					17																	685930		2187	4276	6463	SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:685930G>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685930G>T	Exception_encountered					GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	p.L104L	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	1	418	+			104					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.312G>T		.	.	.	.	.	.	.	.	.	.	G	13.05	2.120315	0.37436	.	.	ENSG00000167699	ENST00000397393	.	.	.	4.97	-1.15	0.09709	.	.	.	.	.	T	0.59032	0.2164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59931	-0.7361	5	0.87932	D	0	-13.6152	6.1788	0.20459	0.2313:0.2452:0.5235:0.0	.	.	.	.	K	63	.	ENSP00000380548:Q63K	Q	-	1	0	GLOD4	632680	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	1.785000	0.38684	-0.025000	0.13918	-0.175000	0.13238	CAG		0.572	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		6	6	1	0	0.00116845	0.00120075	6	6				
MED11	400569	broad.mit.edu	37	17	4636382	4636382	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:4636382C>G	ENST00000293777.5	+	3	310	c.254C>G	c.(253-255)tCt>tGt	p.S85C	RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000575284.1_3'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	85						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						TCCAGCTACTCTTCGAGGAAG	0.552																																						uc002fyp.2		NA																	0					0						c.(253-255)TCT>TGT		mediator complex subunit 11							93.0	80.0	85.0					17																	4636382		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4636382C>G	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.254C>G	17.37:g.4636382C>G	ENSP00000293777:p.Ser85Cys						p.S85C	NM_001001683	NP_001001683	Q9P086	MED11_HUMAN			3	316	+			85					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.254C>G	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343611	0.61073	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.74	5.74	0.90152	.	0.154508	0.43579	D	0.000543	T	0.53948	0.1828	L	0.54323	1.7	0.48830	D	0.999716	P	0.35714	0.517	B	0.35899	0.213	T	0.58498	-0.7626	9	0.66056	D	0.02	-6.1724	13.0483	0.58939	0.0:0.8383:0.1617:0.0	.	85	Q9P086	MED11_HUMAN	C	85	.	ENSP00000293777:S85C	S	+	2	0	MED11	4583131	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.539000	0.60657	2.703000	0.92315	0.655000	0.94253	TCT		0.552	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		35	19	0	0	0	0	35	19				
EIF4A1	1973	broad.mit.edu	37	17	7481674	7481674	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:7481674G>C	ENST00000293831.8	+	11	1107	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.W337C|CD68_ENST00000380498.6_5'Flank|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.W343C|CD68_ENST00000250092.6_5'Flank|SNORA67_ENST00000384423.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	364	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGTCGAGGTGGACGGTTTGGC	0.507																																					Melanoma(120;278 1668 15796 27423 46368)	uc002gho.1		NA																	0				ovary(1)	1						c.(1090-1092)GGA>GCA		eukaryotic translation initiation factor 4A							184.0	165.0	171.0					17																	7481674		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481674G>C	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.1091G>C	17.37:g.7481674G>C	ENSP00000293831:p.Gly364Ala					EIF4A1_uc002ghr.1_Missense_Mutation_p.W343C|EIF4A1_uc002ghq.1_Missense_Mutation_p.W337C|EIF4A1_uc002ghp.1_Missense_Mutation_p.G364A|CD68_uc002ghv.2_5'Flank|CD68_uc002ghu.2_5'Flank	p.G364A	NM_001416	NP_001407	P60842	IF4A1_HUMAN			19	2416	+			364			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.1091G>C	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959186	0.34565	.	.	ENSG00000161960	ENST00000293831	T	0.79940	-1.32	4.85	4.85	0.62838	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.90461	0.4446	9	0.87932	D	0	-28.9464	15.8234	0.78676	0.0:0.0:1.0:0.0	.	364	P60842	IF4A1_HUMAN	A	364	ENSP00000293831:G364A	ENSP00000293831:G364A	G	+	2	0	EIF4A1	7422398	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.386000	0.97228	2.401000	0.81631	0.563000	0.77884	GGA		0.507	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		4	102	0	0	0	0	4	102				
MYH10	4628	broad.mit.edu	37	17	8379172	8379172	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8379172C>G	ENST00000269243.4	-	41	6019	c.5881G>C	c.(5881-5883)Gaa>Caa	p.E1961Q	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.E1982Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1992Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1977Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1961					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCTTACTTTCTGTGTCATCG	0.582																																						uc002gll.2		NA																	0				ovary(2)	2						c.(5881-5883)GAA>CAA		myosin, heavy polypeptide 10, non-muscle							185.0	172.0	177.0					17																	8379172		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8379172C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5881G>C	17.37:g.8379172C>G	ENSP00000269243:p.Glu1961Gln					MYH10_uc002glm.2_Missense_Mutation_p.E1992Q|MYH10_uc010cnx.2_Missense_Mutation_p.E1970Q	p.E1961Q	NM_005964	NP_005955	P35580	MYH10_HUMAN			41	5977	-			1961			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5881G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002847	0.54254	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86432	-2.1;-2.12;-2.12;-2.1	4.89	4.89	0.63831	.	0.049767	0.85682	D	0.000000	D	0.84047	0.5386	N	0.08118	0	0.53688	D	0.999979	B;P;B	0.43909	0.136;0.821;0.084	B;P;B	0.52386	0.171;0.697;0.078	D	0.87477	0.2418	10	0.72032	D	0.01	.	18.1874	0.89796	0.0:1.0:0.0:0.0	.	1970;1992;1961	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1961;1992;1982;1977	ENSP00000269243:E1961Q;ENSP00000353590:E1992Q;ENSP00000379539:E1982Q;ENSP00000369315:E1977Q	ENSP00000269243:E1961Q	E	-	1	0	MYH10	8319897	1.000000	0.71417	0.972000	0.41901	0.819000	0.46315	7.177000	0.77650	2.681000	0.91329	0.655000	0.94253	GAA		0.582	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			88	61	0	0	0	0	88	61				
MYH10	4628	broad.mit.edu	37	17	8393817	8393817	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:8393817C>G	ENST00000269243.4	-	33	4770	c.4632G>C	c.(4630-4632)atG>atC	p.M1544I	MYH10_ENST00000396239.1_Missense_Mutation_p.M1565I|MYH10_ENST00000379980.4_Missense_Mutation_p.M1560I|MYH10_ENST00000360416.3_Missense_Mutation_p.M1575I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1544					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTGGGTCCTCATTTCCTCCA	0.557																																						uc002gll.2		NA																	0				ovary(2)	2						c.(4630-4632)ATG>ATC		myosin, heavy polypeptide 10, non-muscle							117.0	106.0	110.0					17																	8393817		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8393817C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4632G>C	17.37:g.8393817C>G	ENSP00000269243:p.Met1544Ile					MYH10_uc002glm.2_Missense_Mutation_p.M1575I|MYH10_uc010cnx.2_Missense_Mutation_p.M1553I	p.M1544I	NM_005964	NP_005955	P35580	MYH10_HUMAN			33	4728	-			1544			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4632G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045931	0.75846	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.77	4.77	0.60923	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	L	0.48986	1.54	0.80722	D	1	B;B;B	0.23185	0.081;0.006;0.081	B;B;B	0.33121	0.158;0.044;0.158	T	0.64964	-0.6283	10	0.09338	T	0.73	.	18.3251	0.90251	0.0:1.0:0.0:0.0	.	1553;1575;1544	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	I	1544;1575;1565;1560	ENSP00000269243:M1544I;ENSP00000353590:M1575I;ENSP00000379539:M1565I;ENSP00000369315:M1560I	ENSP00000269243:M1544I	M	-	3	0	MYH10	8334542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.603000	0.82811	2.629000	0.89072	0.655000	0.94253	ATG		0.557	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			36	32	0	0	0	0	36	32				
FLOT2	2319	broad.mit.edu	37	17	27208935	27208935	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:27208935C>G	ENST00000394908.4	-	8	915	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	FLOT2_ENST00000394906.2_Missense_Mutation_p.E326Q|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E271Q	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	271					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCCTGTGCCTCCACGGCAATC	0.612																																						uc002hdc.2		NA																	0					0						c.(811-813)GAG>CAG		flotillin 2							50.0	54.0	52.0					17																	27208935		2127	4256	6383	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27208935C>G	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.811G>C	17.37:g.27208935C>G	ENSP00000378368:p.Glu271Gln						p.E271Q	NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		8	934	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		271						Missense_Mutation	SNP	ENST00000394908.4	37	c.811G>C	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844494	0.51164	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.33654	1.4;1.4	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.43646	1.37	0.80722	D	1	P	0.36282	0.546	P	0.46144	0.505	T	0.07404	-1.0774	10	0.13470	T	0.59	-33.9965	18.3162	0.90221	0.0:1.0:0.0:0.0	.	271	Q14254	FLOT2_HUMAN	Q	326;271	ENSP00000378366:E326Q;ENSP00000378368:E271Q	ENSP00000378366:E326Q	E	-	1	0	FLOT2	24233061	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.060000	0.71141	2.587000	0.87381	0.591000	0.81541	GAG		0.612	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		21	43	0	0	0	0	21	43				
EFCAB5	374786	broad.mit.edu	37	17	28361326	28361326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:28361326G>T	ENST00000394835.3	+	8	1315	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E32*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E319*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E375*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E375*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	375							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTGCAGATGAATTTCGGGA	0.413																																						uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(1123-1125)GAA>TAA		EF-hand calcium binding domain 5 isoform a							76.0	73.0	74.0					17																	28361326		1929	4126	6055	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28361326G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1123G>T	17.37:g.28361326G>T	ENSP00000378312:p.Glu375*					EFCAB5_uc010wbi.1_Nonsense_Mutation_p.E118*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.E319*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.E32*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.E254*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.E254*	p.E375*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			8	1315	+			375					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.1123G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	30	5.053449	0.93793	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.2	5.2	0.72013	.	0.111909	0.39083	N	0.001476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-23.5064	9.7957	0.40733	0.0937:0.0:0.9063:0.0	.	.	.	.	X	319;118;32;375;375;375;375;319;181	.	ENSP00000322003:E375X	E	+	1	0	EFCAB5	25385452	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.492000	0.60334	2.423000	0.82170	0.561000	0.74099	GAA		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		12	38	1	0	3.07e-06	3.22e-06	12	38				
ATAD5	79915	broad.mit.edu	37	17	29185216	29185216	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:29185216G>C	ENST00000321990.4	+	9	3209	c.2831G>C	c.(2830-2832)aGa>aCa	p.R944T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	944					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAGTAAGAAATCTTTTG	0.303																																						uc002hfs.1		NA																	0				ovary(3)	3						c.(2830-2832)AGA>ACA		ATPase family, AAA domain containing 5							85.0	83.0	84.0					17																	29185216		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29185216G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2831G>C	17.37:g.29185216G>C	ENSP00000313171:p.Arg944Thr					ATAD5_uc002hft.1_Missense_Mutation_p.R841T	p.R944T	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			9	3177	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	944					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.2831G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935214	0.34189	.	.	ENSG00000176208	ENST00000321990	D	0.87809	-2.3	5.97	4.99	0.66335	.	0.148539	0.64402	D	0.000018	D	0.90208	0.6939	M	0.71581	2.175	0.37329	D	0.909884	D;D	0.65815	0.991;0.995	P;P	0.59703	0.862;0.797	D	0.88314	0.2958	10	0.20046	T	0.44	.	12.4407	0.55623	0.133:0.0:0.867:0.0	.	944;944	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	944	ENSP00000313171:R944T	ENSP00000313171:R944T	R	+	2	0	ATAD5	26209342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.988000	0.56951	2.823000	0.97156	0.591000	0.81541	AGA		0.303	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		24	34	0	0	0	0	24	34				
CACNB1	782	broad.mit.edu	37	17	37340341	37340341	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:37340341G>C	ENST00000394303.3	-	10	1048	c.841C>G	c.(841-843)Ctc>Gtc	p.L281V	CACNB1_ENST00000344140.5_Missense_Mutation_p.L326V|CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000394310.3_Missense_Mutation_p.L281V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	281					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGTTGTTGAGAACTGAGCGC	0.582																																					Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(841-843)CTC>GTC		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						153.0	129.0	137.0					17																	37340341		2203	4300	6503	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37340341G>C		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.841C>G	17.37:g.37340341G>C	ENSP00000377840:p.Leu281Val					CACNB1_uc002hrl.1_Missense_Mutation_p.L53V|CACNB1_uc002hrn.2_Missense_Mutation_p.L281V|CACNB1_uc002hro.2_Missense_Mutation_p.L326V	p.L281V	NM_000723	NP_000714	Q02641	CACB1_HUMAN			10	994	-			281					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.841C>G	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809547	0.90707	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.82167	-1.58;-1.58;-1.58	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.90000	0.6878	M	0.63428	1.95	0.80722	D	1	D;D;D	0.76494	0.982;0.974;0.999	D;D;D	0.80764	0.994;0.953;0.994	D	0.90523	0.4490	10	0.66056	D	0.02	-18.9003	17.986	0.89156	0.0:0.0:1.0:0.0	.	326;281;281	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	V	231;281;326;281;232	ENSP00000377840:L281V;ENSP00000345461:L326V;ENSP00000377847:L281V	ENSP00000345461:L326V	L	-	1	0	CACNB1	34593867	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.659000	0.74412	2.562000	0.86427	0.491000	0.48974	CTC		0.582	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			22	36	0	0	0	0	22	36				
RAPGEFL1	51195	broad.mit.edu	37	17	38347604	38347604	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:38347604G>A	ENST00000456989.2	+	9	965	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.G301S|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.G252S|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.G252S			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	458					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGGGGAGCGCGGCCGCCGGGA	0.711																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(754-756)GGC>AGC		Rap guanine nucleotide exchange factor							7.0	10.0	9.0					17																	38347604		2125	4181	6306	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38347604G>A	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.919G>A	17.37:g.38347604G>A	ENSP00000394530:p.Gly307Ser					RAPGEFL1_uc010wfd.1_Missense_Mutation_p.G188S	p.G252S	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			9	1244	+			458			Ras-GEF.			Missense_Mutation	SNP	ENST00000456989.2	37	c.754G>A		.	.	.	.	.	.	.	.	.	.	G	15.55	2.866660	0.51588	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T	0.27890	1.64;1.64;1.64	4.99	4.99	0.66335	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.152072	0.42294	D	0.000737	T	0.12817	0.0311	N	0.04508	-0.205	0.47659	D	0.999486	B;P	0.39535	0.019;0.677	B;B	0.26517	0.017;0.07	T	0.16928	-1.0386	10	0.19147	T	0.46	.	17.1977	0.86898	0.0:0.0:1.0:0.0	.	188;458	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	S	307;301;252;457;252	ENSP00000394530:G307S;ENSP00000438631:G301S;ENSP00000408322:G252S	ENSP00000264644:G457S	G	+	1	0	RAPGEFL1	35601130	0.998000	0.40836	1.000000	0.80357	0.963000	0.63663	1.969000	0.40510	2.611000	0.88343	0.511000	0.50034	GGC		0.711	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		9	9	0	0	0	0	9	9				
KRT38	8687	broad.mit.edu	37	17	39595601	39595601	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39595601C>T	ENST00000246646.3	-	3	585	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	196	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGGAGCGCTCACTCTCCAGC	0.622																																						uc002hwq.1		NA																	0				skin(2)	2						c.(586-588)GAG>AAG		keratin 38							68.0	64.0	65.0					17																	39595601		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39595601C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.586G>A	17.37:g.39595601C>T	ENSP00000246646:p.Glu196Lys						p.E196K	NM_006771	NP_006762	O76015	KRT38_HUMAN			3	1009	-		Breast(137;0.000496)	196			Rod.|Coil 1B.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.586G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327919	0.95733	.	.	ENSG00000171360	ENST00000246646	D	0.90385	-2.66	4.21	4.21	0.49690	Filament (1);	0.000000	0.45361	D	0.000371	D	0.96393	0.8823	H	0.96662	3.86	0.46131	D	0.998886	D	0.58268	0.982	P	0.59825	0.864	D	0.97943	1.0327	10	0.87932	D	0	.	15.7134	0.77649	0.0:1.0:0.0:0.0	.	196	O76015	KRT38_HUMAN	K	196	ENSP00000246646:E196K	ENSP00000246646:E196K	E	-	1	0	KRT38	36849127	1.000000	0.71417	0.889000	0.34880	0.169000	0.22640	7.563000	0.82314	2.177000	0.69029	0.484000	0.47621	GAG		0.622	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		22	46	0	0	0	0	22	46				
KRT17	3872	broad.mit.edu	37	17	39780615	39780615	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:39780615G>A	ENST00000311208.8	-	1	214	c.147C>T	c.(145-147)ggC>ggT	p.G49G	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	49	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CGAGGGTGCTGCCCAGGCCGC	0.701																																					Pancreas(92;1242 2086 39193 50508)	uc002hxh.2		NA																	0				ovary(1)|skin(1)	2						c.(145-147)GGC>GGT		keratin 17							18.0	21.0	20.0					17																	39780615		2202	4295	6497	SO:0001819	synonymous_variant	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780615G>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.147C>T	17.37:g.39780615G>A						JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Silent_p.G49G	p.G49G	NM_000422	NP_000413	Q04695	K1C17_HUMAN			1	268	-		Breast(137;0.000307)	49			Head.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	c.147C>T	CCDS11402.1																																																																																				0.701	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		12	18	0	0	0	0	12	18				
FAM134C	162427	broad.mit.edu	37	17	40733894	40733894	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40733894G>C	ENST00000309428.5	-	9	1397	c.1338C>G	c.(1336-1338)gaC>gaG	p.D446E	FAM134C_ENST00000543197.1_Missense_Mutation_p.D251E|FAM134C_ENST00000585894.1_Missense_Mutation_p.D349E	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	446						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GAAGTTCAAAGTCATCCCCCT	0.587																																						uc002ial.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1336-1338)GAC>GAG		hypothetical protein LOC162427							46.0	44.0	45.0					17																	40733894		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40733894G>C	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1338C>G	17.37:g.40733894G>C	ENSP00000309432:p.Asp446Glu					FAM134C_uc010wgq.1_Missense_Mutation_p.D246E|FAM134C_uc002iam.1_Missense_Mutation_p.D246E|FAM134C_uc010cyk.1_Missense_Mutation_p.D349E	p.D446E	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1441	-		Breast(137;0.00116)	446					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.1338C>G	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362797	0.82353	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.72051	-0.62;-0.49	5.9	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	M	0.74881	2.28	0.53005	D	0.999966	D	0.89917	1.0	D	0.83275	0.996	T	0.80979	-0.1140	10	0.87932	D	0	-15.8705	10.4239	0.44367	0.2112:0.0:0.7888:0.0	.	446	Q86VR2	F134C_HUMAN	E	446;251	ENSP00000309432:D446E;ENSP00000446235:D251E	ENSP00000309432:D446E	D	-	3	2	FAM134C	37987420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.851000	0.55926	0.389000	0.25086	0.563000	0.77884	GAC		0.587	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		22	32	0	0	0	0	22	32				
FAM134C	162427	broad.mit.edu	37	17	40734073	40734073	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:40734073G>A	ENST00000309428.5	-	9	1218	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	FAM134C_ENST00000543197.1_Missense_Mutation_p.L192F|FAM134C_ENST00000585894.1_Missense_Mutation_p.L290F	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	387						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CCTACAGGAAGAGCACCAAGC	0.657																																						uc002ial.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1159-1161)CTT>TTT		hypothetical protein LOC162427							64.0	65.0	64.0					17																	40734073		2203	4299	6502	SO:0001583	missense	162427					integral to membrane		g.chr17:40734073G>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1159C>T	17.37:g.40734073G>A	ENSP00000309432:p.Leu387Phe					FAM134C_uc010wgq.1_Missense_Mutation_p.L187F|FAM134C_uc002iam.1_Missense_Mutation_p.L187F|FAM134C_uc010cyk.1_Missense_Mutation_p.L290F	p.L387F	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1262	-		Breast(137;0.00116)	387					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.1159C>T	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189200	0.38707	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.51817	0.69;0.74	5.9	0.458	0.16670	.	0.196102	0.45126	D	0.000382	T	0.30792	0.0776	L	0.31294	0.92	0.32509	N	0.537773	B	0.22003	0.063	B	0.24541	0.054	T	0.19679	-1.0298	10	0.52906	T	0.07	-21.6829	6.1995	0.20567	0.4266:0.1223:0.4511:0.0	.	387	Q86VR2	F134C_HUMAN	F	387;192	ENSP00000309432:L387F;ENSP00000446235:L192F	ENSP00000309432:L387F	L	-	1	0	FAM134C	37987599	0.954000	0.32549	0.956000	0.39512	0.978000	0.69477	1.659000	0.37387	0.114000	0.18032	0.563000	0.77884	CTT		0.657	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		35	55	0	0	0	0	35	55				
NAGS	162417	broad.mit.edu	37	17	42084746	42084746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42084746C>G	ENST00000293404.3	+	5	1270	c.1152C>G	c.(1150-1152)gaC>gaG	p.D384E	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	384	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCAGCCTGGACAAGCTGGACC	0.662											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ies.2		NA																	0					0						c.(1150-1152)GAC>GAG		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						32.0	34.0	33.0					17																	42084746		2198	4298	6496	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42084746C>G	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1152C>G	17.37:g.42084746C>G	ENSP00000293404:p.Asp384Glu		OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Missense_Mutation_p.D384E|NAGS_uc002iet.2_Missense_Mutation_p.D8E	p.D384E	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1152	+		Breast(137;0.00536)|Prostate(33;0.0724)	384			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1152C>G	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	C	7.748	0.702729	0.15172	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.93426	-3.22	5.56	4.57	0.56435	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);Domain of unknown function DUF619 (1);	0.196377	0.42548	D	0.000696	D	0.83326	0.5230	N	0.08118	0	0.28918	N	0.892272	B;B	0.20550	0.046;0.046	B;B	0.22601	0.04;0.04	T	0.67432	-0.5672	10	0.07030	T	0.85	-41.0157	13.626	0.62165	0.0:0.8062:0.1938:0.0	.	218;384	Q2NKP2;Q8N159	.;NAGS_HUMAN	E	218;384	ENSP00000293404:D384E	ENSP00000293404:D384E	D	+	3	2	NAGS	39440272	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	1.094000	0.30951	2.623000	0.88846	0.561000	0.74099	GAC		0.662	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		16	32	0	0	0	0	16	32				
SLC4A1	6521	broad.mit.edu	37	17	42338013	42338013	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:42338013G>C	ENST00000262418.6	-	5	494	c.339C>G	c.(337-339)gtC>gtG	p.V113V	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'UTR	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	113	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGGTGAAGACTCTACGCA	0.642																																						uc002igf.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(337-339)GTC>GTG		solute carrier family 4, anion exchanger, member							45.0	50.0	48.0					17																	42338013		2203	4300	6503	SO:0001819	synonymous_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42338013G>C		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.339C>G	17.37:g.42338013G>C						SLC4A1_uc002igg.3_Silent_p.V113V	p.V113V	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	5	488	-		Breast(137;0.014)|Prostate(33;0.0181)	113			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	c.339C>G	CCDS11481.1																																																																																				0.642	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		23	28	0	0	0	0	23	28				
HEXIM2	124790	broad.mit.edu	37	17	43246753	43246753	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:43246753C>A	ENST00000307275.3	+	4	874	c.438C>A	c.(436-438)ttC>ttA	p.F146L	HEXIM2_ENST00000591576.1_Missense_Mutation_p.F146L|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.F146L|RP13-890H12.2_ENST00000589451.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	146					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						CCACCCAGTTCCTGATGAATG	0.632																																						uc002iih.1		NA																	0					0						c.(436-438)TTC>TTA		hexamthylene bis-acetamide inducible 2							40.0	43.0	42.0					17																	43246753		2203	4300	6503	SO:0001583	missense	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246753C>A	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.438C>A	17.37:g.43246753C>A	ENSP00000302276:p.Phe146Leu					HEXIM2_uc010daf.1_Missense_Mutation_p.F168L|HEXIM2_uc002iii.1_Missense_Mutation_p.F146L|HEXIM2_uc002iij.1_Missense_Mutation_p.F146L|uc002iik.1_RNA	p.F146L	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN			4	677	+			146					D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	c.438C>A	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601610	0.87055	.	.	ENSG00000168517	ENST00000307275	.	.	.	5.01	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.78407	0.4278	M	0.85462	2.755	0.45239	D	0.998246	D	0.89917	1.0	D	0.85130	0.997	T	0.79560	-0.1753	9	0.87932	D	0	-15.1039	9.8602	0.41109	0.0:0.8253:0.0:0.1747	.	146	Q96MH2	HEXI2_HUMAN	L	146	.	ENSP00000302276:F146L	F	+	3	2	HEXIM2	40602536	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.734000	0.55037	0.773000	0.33404	0.561000	0.74099	TTC		0.632	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		18	29	1	0	2.39e-15	2.61e-15	18	29				
KANSL1	284058	broad.mit.edu	37	17	44248690	44248690	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:44248690G>C	ENST00000262419.6	-	2	1290	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	KANSL1_ENST00000572904.1_Missense_Mutation_p.L274V|KANSL1_ENST00000432791.1_Missense_Mutation_p.L274V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.L274V|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000575318.1_Missense_Mutation_p.L274V	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	274					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L274V(1)									GCACTGAAAAGAATGGAAGAC	0.483																																						uc002ikb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(820-822)CTT>GTT		hypothetical protein LOC284058							63.0	82.0	76.0					17																	44248690		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44248690G>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.820C>G	17.37:g.44248690G>C	ENSP00000262419:p.Leu274Val					KIAA1267_uc002ikc.2_Missense_Mutation_p.L274V|KIAA1267_uc002ikd.2_Missense_Mutation_p.L274V|KIAA1267_uc010dav.2_Missense_Mutation_p.L274V	p.L274V	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	905	-		Melanoma(429;0.211)	274					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.820C>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	5.644	0.303419	0.10678	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.11063	2.81;2.81	6.04	5.04	0.67666	.	0.371038	0.28555	N	0.014924	T	0.06462	0.0166	N	0.08118	0	0.80722	D	1	B;B	0.18166	0.026;0.0	B;B	0.21708	0.036;0.002	T	0.42616	-0.9441	10	0.23891	T	0.37	-9.7942	13.819	0.63309	0.0:0.0:0.8477:0.1523	.	274;274	C9JHY2;Q7Z3B3	.;K1267_HUMAN	V	274	ENSP00000262419:L274V;ENSP00000387393:L274V	ENSP00000262419:L274V	L	-	1	0	KIAA1267	41604467	0.990000	0.36364	1.000000	0.80357	0.958000	0.62258	3.142000	0.50601	2.873000	0.98535	0.561000	0.74099	CTT		0.483	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		20	76	0	0	0	0	20	76				
TTLL6	284076	broad.mit.edu	37	17	46862508	46862508	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:46862508C>G	ENST00000393382.3	-	13	1958	c.1817G>C	c.(1816-1818)aGa>aCa	p.R606T	TTLL6_ENST00000433608.2_Missense_Mutation_p.R299T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTTCACCTCTGACACTCAA	0.527																																						uc010wlo.1		NA																	0					0						c.(1816-1818)AGA>ACA		tubulin tyrosine ligase-like family, member 6							107.0	101.0	103.0					17																	46862508		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46862508C>G	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1817G>C	17.37:g.46862508C>G	ENSP00000377043:p.Arg606Thr					TTLL6_uc002iob.2_Missense_Mutation_p.R299T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.R359T|TTLL6_uc002iod.2_Missense_Mutation_p.R453T	p.R606T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN			14	1852	-			558						Missense_Mutation	SNP	ENST00000393382.3	37	c.1817G>C	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749105	0.30955	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.85	-1.18	0.09617	.	7739.210000	0.00166	N	0.000000	T	0.45357	0.1338	L	0.59436	1.845	0.09310	N	1	P;P;P	0.45531	0.483;0.483;0.86	B;B;P	0.47075	0.084;0.084;0.536	T	0.35001	-0.9806	9	0.51188	T	0.08	.	4.286	0.10855	0.0:0.3754:0.1728:0.4518	.	558;359;299	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	606;299;284;558	.	ENSP00000302547:R299T	R	-	2	0	TTLL6	44217507	0.011000	0.17503	0.001000	0.08648	0.053000	0.15095	-0.310000	0.08135	-0.028000	0.13850	-0.258000	0.10820	AGA		0.527	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		37	63	0	0	0	0	37	63				
SNF8	11267	broad.mit.edu	37	17	47022055	47022055	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:47022055C>G	ENST00000502492.1	-	1	424	c.42G>C	c.(40-42)aaG>aaC	p.K14N	SNF8_ENST00000290330.3_Missense_Mutation_p.K14N			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	14					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						CTGCAAGTTTCTTCTTGGCGA	0.687																																						uc002ioj.2		NA																	0					0						c.(40-42)AAG>AAC		EAP30 subunit of ELL complex							117.0	126.0	123.0					17																	47022055		2203	4300	6503	SO:0001583	missense	11267				cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding	g.chr17:47022055C>G	AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"""SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"""			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.42G>C	17.37:g.47022055C>G	ENSP00000421380:p.Lys14Asn					SNF8_uc002iok.2_Missense_Mutation_p.K14N	p.K14N	NM_007241	NP_009172	Q96H20	SNF8_HUMAN			1	100	-			14					Q8IXY3|Q9UN50	Missense_Mutation	SNP	ENST00000502492.1	37	c.42G>C	CCDS11541.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643282	0.47153	.	.	ENSG00000159210	ENST00000502492;ENST00000290330;ENST00000510558	.	.	.	5.15	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	L	0.59436	1.845	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.73519	-0.3957	9	0.87932	D	0	-24.2376	13.6573	0.62346	0.0:0.9249:0.0:0.0751	.	14;14	Q96H20-2;Q96H20	.;SNF8_HUMAN	N	14	.	ENSP00000290330:K14N	K	-	3	2	SNF8	44377054	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.289000	0.51747	1.398000	0.46701	-0.254000	0.11334	AAG		0.687	SNF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361172.1	NM_007241		86	128	0	0	0	0	86	128				
SPAG9	9043	broad.mit.edu	37	17	49054546	49054546	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:49054546G>C	ENST00000262013.7	-	27	3654	c.3446C>G	c.(3445-3447)aCa>aGa	p.T1149R	SPAG9_ENST00000510283.1_Missense_Mutation_p.T992R|SPAG9_ENST00000357122.4_Missense_Mutation_p.T1135R|SPAG9_ENST00000505279.1_Missense_Mutation_p.T1139R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1149					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CATAAGAGCTGTAATTCTCAC	0.388																																						uc002itc.2		NA																	0				lung(4)|breast(1)	5						c.(3445-3447)ACA>AGA		sperm associated antigen 9 isoform 1							128.0	119.0	122.0					17																	49054546		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49054546G>C	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3446C>G	17.37:g.49054546G>C	ENSP00000262013:p.Thr1149Arg					SPAG9_uc002itb.2_Missense_Mutation_p.T1135R|SPAG9_uc002itd.2_Missense_Mutation_p.T1139R|SPAG9_uc002ita.2_Missense_Mutation_p.T992R	p.T1149R	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		27	3655	-			1149					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3446C>G	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032608	0.93575	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.59	5.59	0.84812	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	T	0.79629	-0.1724	10	0.87932	D	0	-15.5363	19.587	0.95493	0.0:0.0:1.0:0.0	.	1139;1149;1135;992	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	R	1149;906;896;992;1139;1135;747	ENSP00000262013:T1149R;ENSP00000423165:T992R;ENSP00000426900:T1139R;ENSP00000349636:T1135R	ENSP00000262013:T1149R	T	-	2	0	SPAG9	46409545	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.409000	0.97331	2.624000	0.88883	0.460000	0.39030	ACA		0.388	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		55	82	0	0	0	0	55	82				
TEX2	55852	broad.mit.edu	37	17	62290455	62290455	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:62290455C>T	ENST00000583097.1	-	2	1295	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	TEX2_ENST00000584379.1_Missense_Mutation_p.E375K|TEX2_ENST00000258991.3_Missense_Mutation_p.E375K			Q8IWB9	TEX2_HUMAN	testis expressed 2	375					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTTGTGGGCTCACCAGTGGAC	0.483																																						uc002jec.2		NA																	0				ovary(1)	1						c.(1123-1125)GAG>AAG		testis expressed sequence 2							61.0	60.0	61.0					17																	62290455		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290455C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1123G>A	17.37:g.62290455C>T	ENSP00000462665:p.Glu375Lys					TEX2_uc002jed.2_Missense_Mutation_p.E375K|TEX2_uc002jee.2_Missense_Mutation_p.E375K	p.E375K	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1296	-			375					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1123G>A		.	.	.	.	.	.	.	.	.	.	C	7.329	0.618497	0.14129	.	.	ENSG00000136478	ENST00000258991	T	0.44482	0.92	6.17	6.17	0.99709	.	0.293400	0.39341	N	0.001393	T	0.40171	0.1106	L	0.44542	1.39	0.42993	D	0.994497	B;B	0.16603	0.018;0.011	B;B	0.12156	0.007;0.003	T	0.14172	-1.0482	10	0.21540	T	0.41	-7.0554	20.8794	0.99867	0.0:1.0:0.0:0.0	.	375;375	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	K	375	ENSP00000258991:E375K	ENSP00000258991:E375K	E	-	1	0	TEX2	59644187	0.996000	0.38824	0.802000	0.32245	0.040000	0.13550	4.239000	0.58694	2.941000	0.99782	0.655000	0.94253	GAG		0.483	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		41	109	0	0	0	0	41	109				
PRKAR1A	5573	broad.mit.edu	37	17	66524033	66524033	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:66524033C>G	ENST00000589228.1	+	8	889	c.761C>G	c.(760-762)tCt>tGt	p.S254C	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.S254C|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.S254C|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.S254C|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.S254C	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	254					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AGTAAAGTCTCTATTTTAGGT	0.353			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	uc002jhg.2		NA	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	T|Mis|N|F|S	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	myxoma|endocrine|papillary thyroid	papillary thyroid		0				adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	GRCh37	CD002528	PRKAR1A	D		c.(760-762)TCT>TGT		cAMP-dependent protein kinase, regulatory							168.0	172.0	170.0					17																	66524033		2203	4300	6503	SO:0001583	missense	5573	Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66524033C>G		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.761C>G	17.37:g.66524033C>G	ENSP00000464977:p.Ser254Cys					PRKAR1A_uc002jhh.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhi.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhj.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhk.2_Missense_Mutation_p.S130C|PRKAR1A_uc002jhl.2_Missense_Mutation_p.S254C|PRKAR1A_uc002jhm.2_Missense_Mutation_p.S254C	p.S254C	NM_212471	NP_997636	P10644	KAP0_HUMAN			8	941	+	Breast(10;1.64e-13)		254			cAMP 1.		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.761C>G	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801018	0.90538	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	T;T;T	0.74526	-0.85;-0.85;-0.85	5.74	5.74	0.90152	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.87547	2.89	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.53006	0.715;0.715	D	0.87734	0.2581	10	0.87932	D	0	-25.0109	19.9209	0.97085	0.0:1.0:0.0:0.0	.	254;254	B2R5T5;P10644	.;KAP0_HUMAN	C	254	ENSP00000351410:S254C;ENSP00000376475:S254C;ENSP00000445625:S254C	ENSP00000351410:S254C	S	+	2	0	PRKAR1A	64035628	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	7.818000	0.86416	2.704000	0.92352	0.650000	0.86243	TCT		0.353	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			29	77	0	0	0	0	29	77				
CDC42EP4	23580	broad.mit.edu	37	17	71281968	71281968	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71281968G>A	ENST00000335793.3	-	2	1066	c.672C>T	c.(670-672)atC>atT	p.I224I	CDC42EP4_ENST00000439510.2_Silent_p.I154I|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	224					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTTGTCCATGATGCTGAGGA	0.657																																						uc002jjn.2		NA																	0					0						c.(670-672)ATC>ATT		Cdc42 effector protein 4							69.0	62.0	64.0					17																	71281968		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281968G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.672C>T	17.37:g.71281968G>A						CDC42EP4_uc002jjo.2_Silent_p.I224I|CDC42EP4_uc002jjp.1_Silent_p.I154I	p.I224I	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	819	-			224					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.672C>T	CCDS11695.1																																																																																				0.657	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		25	72	0	0	0	0	25	72				
SDK2	54549	broad.mit.edu	37	17	71364591	71364591	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71364591C>T	ENST00000392650.3	-	37	5122	c.5122G>A	c.(5122-5124)Gat>Aat	p.D1708N	SDK2_ENST00000388726.3_Missense_Mutation_p.D1689N|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1708	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGAGGCCCATCCCCAGCGGCG	0.647																																						uc010dfm.2		NA																	0				ovary(2)	2						c.(5122-5124)GAT>AAT		sidekick 2							38.0	30.0	33.0					17																	71364591		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71364591C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5122G>A	17.37:g.71364591C>T	ENSP00000376421:p.Asp1708Asn					SDK2_uc002jjt.3_Missense_Mutation_p.D848N|SDK2_uc010dfn.2_Missense_Mutation_p.D1387N	p.D1708N	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			37	5122	-			1708			Fibronectin type-III 11.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5122G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368214	0.95900	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.53423	0.62;0.62;0.62	5.21	5.21	0.72293	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.050350	0.85682	D	0.000000	T	0.72228	0.3434	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.97110	1.0;0.986;0.976	T	0.74256	-0.3724	10	0.45353	T	0.12	.	18.7664	0.91874	0.0:1.0:0.0:0.0	.	1708;1708;1689	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	N	1332;1708;1689;865;1708;49	ENSP00000376421:D1708N;ENSP00000373378:D1689N;ENSP00000407098:D865N	ENSP00000324967:D1708N	D	-	1	0	SDK2	68876186	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	7.660000	0.83776	2.432000	0.82394	0.563000	0.77884	GAT		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	21	0	0	0	0	3	21				
SDK2	54549	broad.mit.edu	37	17	71415334	71415334	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:71415334C>G	ENST00000392650.3	-	16	2157	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q719H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	719	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAATTCCATTCTGGTGGCTCT	0.617																																						uc010dfm.2		NA																	0				ovary(2)	2						c.(2155-2157)CAG>CAC		sidekick 2							56.0	48.0	51.0					17																	71415334		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71415334C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2157G>C	17.37:g.71415334C>G	ENSP00000376421:p.Gln719His					SDK2_uc010dfn.2_Missense_Mutation_p.Q398H	p.Q719H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			16	2157	-			719			Extracellular (Potential).|Fibronectin type-III 2.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2157G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	5.136	0.210704	0.09757	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.57436	0.4;0.4	4.87	3.8	0.43715	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.31804	0.96	0.48511	D	0.999663	B;B	0.12630	0.005;0.006	B;B	0.14023	0.006;0.01	T	0.13548	-1.0505	10	0.19590	T	0.45	.	8.5511	0.33451	0.0:0.785:0.0:0.215	.	719;719	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	H	343;719;719;719	ENSP00000376421:Q719H;ENSP00000373378:Q719H	ENSP00000324967:Q719H	Q	-	3	2	SDK2	68926929	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	0.922000	0.28734	2.266000	0.75297	0.462000	0.41574	CAG		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		7	17	0	0	0	0	7	17				
NT5C	30833	broad.mit.edu	37	17	73127368	73127368	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73127368C>T	ENST00000245552.2	-	2	270	c.183G>A	c.(181-183)gtG>gtA	p.V61V	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000582170.1_Silent_p.V61V|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000578337.1_5'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	61					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	ACACACTGGCCACTTTATCCT	0.652																																						uc002jmx.2		NA																	0					0						c.(181-183)GTG>GTA		5',3'-nucleotidase, cytosolic							34.0	40.0	38.0					17																	73127368		2203	4300	6503	SO:0001819	synonymous_variant	30833				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding	g.chr17:73127368C>T	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.183G>A	17.37:g.73127368C>T						NT5C_uc002jmy.2_RNA	p.V61V	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	258	-	all_lung(278;0.14)|Lung NSC(278;0.168)		61					Q96HS6|Q9NP82	Silent	SNP	ENST00000245552.2	37	c.183G>A	CCDS11715.1																																																																																				0.652	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			7	21	0	0	0	0	7	21				
LLGL2	3993	broad.mit.edu	37	17	73569168	73569168	+	Missense_Mutation	SNP	G	G	A	rs533568617	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73569168G>A	ENST00000392550.3	+	20	2651	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R845Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R845Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	845					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAGTGCGGCGGGTCAGCGTG	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		14663	0.002		0.0	False		,,,				2504	0.0					uc002joh.2		NA																	0				ovary(2)	2						c.(2533-2535)CGG>CAG		lethal giant larvae homolog 2 isoform c							48.0	43.0	45.0					17																	73569168		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569168G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2534G>A	17.37:g.73569168G>A	ENSP00000376333:p.Arg845Gln					LLGL2_uc002joi.2_Missense_Mutation_p.R845Q|LLGL2_uc010dgg.1_Missense_Mutation_p.R845Q|LLGL2_uc002joj.2_Missense_Mutation_p.R834Q|LLGL2_uc010wsd.1_Missense_Mutation_p.R472Q	p.R845Q	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2688	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		845			WD 13.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2534G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165009	0.21538	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.06768	3.26;3.38	4.63	4.63	0.57726	.	0.218990	0.42053	D	0.000761	T	0.16471	0.0396	M	0.68317	2.08	0.37427	D	0.91388	P;P;D;D;P	0.65815	0.699;0.931;0.959;0.995;0.944	B;B;B;P;B	0.56216	0.203;0.171;0.322;0.794;0.279	T	0.02411	-1.1163	10	0.42905	T	0.14	-0.3042	5.5276	0.16967	0.2417:0.0:0.7583:0.0	.	472;834;834;845;845	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	845;845;834	ENSP00000167462:R845Q;ENSP00000376333:R845Q	ENSP00000167462:R845Q	R	+	2	0	LLGL2	71080763	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	3.409000	0.52657	2.408000	0.81797	0.400000	0.26472	CGG		0.647	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		30	19	0	0	0	0	30	19				
ITGB4	3691	broad.mit.edu	37	17	73736024	73736024	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:73736024A>G	ENST00000200181.3	+	20	2505	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	ITGB4_ENST00000450894.3_Missense_Mutation_p.H773R|ITGB4_ENST00000339591.3_Missense_Mutation_p.H773R|ITGB4_ENST00000449880.2_Missense_Mutation_p.H773R|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.H773R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	773					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCTGACCACTTGGACACG	0.612																																						uc002jpg.2		NA																	0				lung(4)	4						c.(2317-2319)CAC>CGC		integrin beta 4 isoform 1 precursor							61.0	49.0	53.0					17																	73736024		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73736024A>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2318A>G	17.37:g.73736024A>G	ENSP00000200181:p.His773Arg					ITGB4_uc002jph.2_Missense_Mutation_p.H773R|ITGB4_uc010dgo.2_Missense_Mutation_p.H773R|ITGB4_uc002jpi.3_Missense_Mutation_p.H773R|ITGB4_uc010dgp.1_Missense_Mutation_p.H773R|ITGB4_uc002jpj.2_Missense_Mutation_p.H773R	p.H773R	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		20	2505	+	all_cancers(13;1.5e-07)		773			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.2318A>G	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779741	0.49891	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.76968	-1.06;-1.01;-1.01	5.05	5.05	0.67936	.	0.060796	0.64402	D	0.000003	T	0.81004	0.4733	L	0.29908	0.895	0.53005	D	0.999969	D;D;D;D	0.76494	0.999;0.997;0.998;0.996	D;D;P;P	0.67382	0.948;0.951;0.894;0.894	T	0.83035	-0.0160	10	0.59425	D	0.04	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	773;773;773;773	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	R	773	ENSP00000200181:H773R;ENSP00000344079:H773R;ENSP00000400217:H773R	ENSP00000200181:H773R	H	+	2	0	ITGB4	71247619	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.289000	0.96061	1.906000	0.55180	0.459000	0.35465	CAC		0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			13	57	0	0	0	0	13	57				
EVPL	2125	broad.mit.edu	37	17	74006418	74006418	+	Silent	SNP	C	C	T	rs201462599	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:74006418C>T	ENST00000301607.3	-	22	3121	c.2868G>A	c.(2866-2868)gaG>gaA	p.E956E	EVPL_ENST00000586740.1_Silent_p.E978E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	956	Central fibrous rod domain.				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						CCACTTCCTTCTCCTCCAGCC	0.682													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17469	0.0		0.0	False		,,,				2504	0.0					uc002jqi.2		NA																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(2866-2868)GAG>GAA		envoplakin							38.0	39.0	39.0					17																	74006418		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006418C>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.2868G>A	17.37:g.74006418C>T						EVPL_uc010wss.1_Silent_p.E978E|EVPL_uc010wst.1_Silent_p.E426E	p.E956E	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	3096	-			956			Central fibrous rod domain.|Potential.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2868G>A	CCDS11737.1																																																																																				0.682	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		16	55	0	0	0	0	16	55				
CYTH1	9267	broad.mit.edu	37	17	76694965	76694965	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:76694965C>G	ENST00000446868.3	-	8	706	c.636G>C	c.(634-636)gaG>gaC	p.E212D	CYTH1_ENST00000585509.1_Missense_Mutation_p.E153D|RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000589297.1_Missense_Mutation_p.E153D|CYTH1_ENST00000591455.1_Missense_Mutation_p.E212D|CYTH1_ENST00000361101.4_Missense_Mutation_p.E212D			Q15438	CYH1_HUMAN	cytohesin 1	212					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CAATGAACCTCTCCACAGTGG	0.483																																						uc002jvw.2		NA																	0				ovary(1)	1						c.(634-636)GAG>GAC		cytohesin 1 isoform 2							234.0	227.0	229.0					17																	76694965		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694965C>G	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.636G>C	17.37:g.76694965C>G	ENSP00000389095:p.Glu212Asp					CYTH1_uc010wtw.1_Missense_Mutation_p.E153D|CYTH1_uc010wtx.1_Missense_Mutation_p.E153D	p.E212D	NM_017456	NP_059430	Q15438	CYH1_HUMAN			8	707	-			212					A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.636G>C		.	.	.	.	.	.	.	.	.	.	C	14.08	2.427556	0.43122	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.33865	1.39;1.39	5.33	4.36	0.52297	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.37750	1.13	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.13407	0.005;0.009	T	0.05305	-1.0893	10	0.34782	T	0.22	.	10.3336	0.43837	0.0:0.8496:0.0:0.1504	.	212;212	Q15438;Q15438-2	CYH1_HUMAN;.	D	212;212;153;153;212;49	ENSP00000389095:E212D;ENSP00000354398:E212D	ENSP00000262763:E212D	E	-	3	2	CYTH1	74206560	0.996000	0.38824	0.997000	0.53966	0.988000	0.76386	1.648000	0.37271	1.223000	0.43536	0.655000	0.94253	GAG		0.483	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		122	344	0	0	0	0	122	344				
RNF213	57674	broad.mit.edu	37	17	78348306	78348306	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:78348306G>A	ENST00000582970.1	+	50	13134	c.12991G>A	c.(12991-12993)Ggc>Agc	p.G4331S	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.G2404S|RNF213_ENST00000508628.2_Missense_Mutation_p.G4380S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4331					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGGTGTACGGCGATGAATA	0.562																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(7210-7212)GGC>AGC		ring finger protein 213							140.0	115.0	123.0					17																	78348306		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348306G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12991G>A	17.37:g.78348306G>A	ENSP00000464087:p.Gly4331Ser					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.G786S	p.G2404S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		25	7433	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7210G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702382	0.68501	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.36340	1.26	4.79	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.83692	2.655	0.33727	D	0.617689	D;D	0.89917	1.0;1.0	D;D	0.78314	0.99;0.991	T	0.74861	-0.3520	10	0.72032	D	0.01	.	11.7943	0.52090	0.0828:0.0:0.9172:0.0	.	4380;2404	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4331;4380;2404	ENSP00000338218:G2404S	ENSP00000338218:G2404S	G	+	1	0	RNF213	75962901	1.000000	0.71417	0.019000	0.16419	0.456000	0.32438	5.956000	0.70315	1.133000	0.42147	0.561000	0.74099	GGC		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		22	69	0	0	0	0	22	69				
ASPSCR1	79058	broad.mit.edu	37	17	79954344	79954344	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:79954344G>C	ENST00000306739.4	+	7	652	c.555G>C	c.(553-555)ctG>ctC	p.L185L	ASPSCR1_ENST00000580534.1_Silent_p.L108L|ASPSCR1_ENST00000306729.7_Silent_p.L185L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	185					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGGAAGCCTGGGCTCGTCAG	0.672			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2		NA		Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	0				soft_tissue(118)|kidney(43)|breast(1)	162						c.(553-555)CTG>CTC		alveolar soft part sarcoma chromosome region,							27.0	28.0	28.0					17																	79954344		2202	4299	6501	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79954344G>C	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.555G>C	17.37:g.79954344G>C						ASPSCR1_uc002kcw.1_Silent_p.L185L|ASPSCR1_uc002kcy.2_Silent_p.L185L|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Silent_p.L108L|ASPSCR1_uc002kdb.1_Silent_p.L108L	p.L185L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	652	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		185					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.555G>C	CCDS11796.1																																																																																				0.672	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		8	36	0	0	0	0	8	36				
SMCHD1	23347	broad.mit.edu	37	18	2700762	2700762	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2700762G>C	ENST00000320876.6	+	12	1831	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R498T|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	498					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTAAGAAGAGAGGGCTTGCA	0.338																																						uc002klm.3		NA																	0					0						c.(1492-1494)AGA>ACA		structural maintenance of chromosomes flexible							70.0	65.0	66.0					18																	2700762		1835	4080	5915	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2700762G>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1493G>C	18.37:g.2700762G>C	ENSP00000326603:p.Arg498Thr					SMCHD1_uc002klk.3_RNA	p.R498T	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			12	1682	+			498					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1493G>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502895	0.85176	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25579	1.79;1.79	5.65	5.65	0.86999	.	.	.	.	.	T	0.35307	0.0927	L	0.41236	1.265	0.41592	D	0.988804	P	0.52842	0.956	P	0.50570	0.644	T	0.07177	-1.0786	9	0.87932	D	0	.	19.7302	0.96179	0.0:0.0:1.0:0.0	.	498	A6NHR9	SMHD1_HUMAN	T	498	ENSP00000326603:R498T;ENSP00000261598:R498T	ENSP00000261598:R498T	R	+	2	0	SMCHD1	2690762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.823000	0.62694	2.655000	0.90218	0.655000	0.94253	AGA		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			24	31	0	0	0	0	24	31				
SMCHD1	23347	broad.mit.edu	37	18	2724980	2724980	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:2724980C>A	ENST00000320876.6	+	21	3025	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	SMCHD1_ENST00000261598.8_Missense_Mutation_p.S896Y|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	896					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTGTAAACTCTTGTCAAGGC	0.323																																						uc002klm.3		NA																	0					0						c.(2686-2688)TCT>TAT		structural maintenance of chromosomes flexible							65.0	60.0	62.0					18																	2724980		1829	4071	5900	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2724980C>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2687C>A	18.37:g.2724980C>A	ENSP00000326603:p.Ser896Tyr					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.S896Y	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			21	2876	+			896					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2687C>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592360	0.28357	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.78	4.86	0.63082	.	0.499420	0.21861	N	0.068038	T	0.24236	0.0587	L	0.27053	0.805	0.32327	N	0.561607	D	0.57257	0.979	P	0.50490	0.642	T	0.18053	-1.0349	10	0.87932	D	0	-18.1187	8.4902	0.33095	0.2431:0.5703:0.1867:0.0	.	896	A6NHR9	SMHD1_HUMAN	Y	896	ENSP00000326603:S896Y;ENSP00000261598:S896Y	ENSP00000261598:S896Y	S	+	2	0	SMCHD1	2714980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.774000	0.38573	2.749000	0.94314	0.655000	0.94253	TCT		0.323	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			10	10	1	0	0.000673444	0.000693706	10	10				
ABHD3	171586	broad.mit.edu	37	18	19237110	19237110	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:19237110G>A	ENST00000289119.2	-	7	985	c.846C>T	c.(844-846)caC>caT	p.H282H	ABHD3_ENST00000580981.1_Silent_p.H229H|ABHD3_ENST00000578270.1_Silent_p.H87H	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	282						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						ACATATGTCGGTGCCTGGAAC	0.338																																						uc002ktl.2		NA																	0				central_nervous_system(1)	1						c.(844-846)CAC>CAT		alpha/beta hydrolase domain containing protein							77.0	75.0	76.0					18																	19237110		2202	4300	6502	SO:0001819	synonymous_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19237110G>A	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.846C>T	18.37:g.19237110G>A						ABHD3_uc002ktm.2_Silent_p.H229H|ABHD3_uc002ktk.2_Silent_p.H87H|ABHD3_uc002ktn.2_Silent_p.H59H	p.H282H	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN			7	986	-			282					B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	c.846C>T	CCDS32802.1																																																																																				0.338	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			7	16	0	0	0	0	7	16				
TTC39C	125488	broad.mit.edu	37	18	21705475	21705475	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:21705475C>G	ENST00000317571.3	+	10	1617	c.1381C>G	c.(1381-1383)Cca>Gca	p.P461A	TTC39C_ENST00000304621.6_Missense_Mutation_p.P400A|TTC39C_ENST00000540918.2_Missense_Mutation_p.P154A|RNU5A-6P_ENST00000384136.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	461										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAAAGCTCTTCCAAACTGTTC	0.463																																						uc002kuw.2		NA																	0				ovary(1)	1						c.(1381-1383)CCA>GCA		tetratricopeptide repeat domain 39C isoform 1							135.0	123.0	127.0					18																	21705475		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21705475C>G	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1381C>G	18.37:g.21705475C>G	ENSP00000323645:p.Pro461Ala					TTC39C_uc002kuu.2_Missense_Mutation_p.P400A	p.P461A	NM_001135993	NP_001129465	Q8N584	TT39C_HUMAN			10	1833	+			461					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.1381C>G	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560387	0.45590	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.39787	1.06;1.06;1.06	5.69	5.69	0.88448	.	0.207650	0.50627	D	0.000114	T	0.29588	0.0738	N	0.16368	0.405	0.58432	D	0.999991	B	0.19200	0.034	B	0.21360	0.034	T	0.09122	-1.0689	10	0.13108	T	0.6	-1.732	18.3409	0.90304	0.0:1.0:0.0:0.0	.	461	Q8N584	TT39C_HUMAN	A	400;461;154	ENSP00000306598:P400A;ENSP00000323645:P461A;ENSP00000443016:P154A	ENSP00000306598:P400A	P	+	1	0	TTC39C	19959473	1.000000	0.71417	0.820000	0.32676	0.809000	0.45718	5.744000	0.68664	2.843000	0.97960	0.591000	0.81541	CCA		0.463	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		25	40	0	0	0	0	25	40				
ASXL3	80816	broad.mit.edu	37	18	31314318	31314318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:31314318G>T	ENST00000269197.5	+	10	1021	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E48Q(1)|p.E341Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAGAAATTGAGAAGGAAAA	0.323																																						uc010dmg.1		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(2)|pancreas(1)	3						c.(1021-1023)GAG>TAG		additional sex combs like 3							58.0	57.0	57.0					18																	31314318		1795	4060	5855	SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31314318G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1021G>T	18.37:g.31314318G>T	ENSP00000269197:p.Glu341*					ASXL3_uc002kxq.2_Nonsense_Mutation_p.E48*	p.E341*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			10	1076	+			341					Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	ENST00000269197.5	37	c.1021G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	37	6.353192	0.97498	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.71	5.71	0.89125	.	0.256602	0.32459	N	0.006069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8549	0.96755	0.0:0.0:1.0:0.0	.	.	.	.	X	341	.	ENSP00000269197:E341X	E	+	1	0	ASXL3	29568316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.699000	0.92147	0.460000	0.39030	GAG		0.323	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	21	1	0	9.7e-10	1.04e-09	8	21				
ONECUT2	9480	broad.mit.edu	37	18	55103474	55103474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:55103474C>T	ENST00000491143.2	+	1	558	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	176	Poly-His.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		gcaccaccatccgcaccacca	0.662																																						uc002lgo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(526-528)CCG>TCG		one cut domain, family member 2							39.0	46.0	44.0					18																	55103474		2198	4297	6495	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103474C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.526C>T	18.37:g.55103474C>T	ENSP00000419185:p.Pro176Ser						p.P176S	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	558	+		Colorectal(73;0.234)	176			Poly-His.			Missense_Mutation	SNP	ENST00000491143.2	37	c.526C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	1.281	-0.610453	0.03690	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	3.15	2.26	0.28386	.	0.753644	0.10712	U	0.642785	T	0.24160	0.0585	N	0.19112	0.55	0.27124	N	0.962073	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	9	0.07990	T	0.79	.	8.8385	0.35126	0.0:0.8795:0.0:0.1205	.	176	O95948	ONEC2_HUMAN	S	157;176	.	ENSP00000262095:P176S	P	+	1	0	ONECUT2	53254472	0.672000	0.27530	0.924000	0.36721	0.170000	0.22686	1.606000	0.36826	0.299000	0.22661	0.305000	0.20034	CCG		0.662	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			6	5	0	0	0	0	6	5				
KIAA1468	57614	broad.mit.edu	37	18	59895656	59895656	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:59895656G>A	ENST00000398130.2	+	8	1505	c.1273G>A	c.(1273-1275)Gta>Ata	p.V425I	KIAA1468_ENST00000256858.6_Missense_Mutation_p.V425I|KIAA1468_ENST00000592479.1_3'UTR	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	425										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCATCCAGATGTAAATAGTTC	0.428																																						uc002lil.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(1273-1275)GTA>ATA		hypothetical protein LOC57614							117.0	107.0	111.0					18																	59895656		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59895656G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1273G>A	18.37:g.59895656G>A	ENSP00000381198:p.Val425Ile					KIAA1468_uc002lik.1_Missense_Mutation_p.V425I|KIAA1468_uc010xel.1_Missense_Mutation_p.V425I|KIAA1468_uc002lim.2_Missense_Mutation_p.V69I	p.V425I	NM_020854	NP_065905	Q9P260	K1468_HUMAN			8	1488	+		Colorectal(73;0.186)	425						Missense_Mutation	SNP	ENST00000398130.2	37	c.1273G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	7.549	0.662259	0.14645	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	6.17	0.0647	0.14354	.	0.597438	0.17594	N	0.168649	T	0.14830	0.0358	N	0.12182	0.205	0.27479	N	0.952632	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16837	-1.0389	8	.	.	.	-0.1123	3.5558	0.07863	0.4177:0.0:0.3076:0.2747	.	425;425;69	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	I	425	.	.	V	+	1	0	KIAA1468	58046636	1.000000	0.71417	0.967000	0.41034	0.546000	0.35178	0.753000	0.26376	0.051000	0.15978	0.655000	0.94253	GTA		0.428	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		26	50	0	0	0	0	26	50				
PHLPP1	23239	broad.mit.edu	37	18	60642700	60642700	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642700G>C	ENST00000262719.5	+	16	4060	c.3826G>C	c.(3826-3828)Gat>Cat	p.D1276H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.D764H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1276	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGACCCTGTGGATCCAGGAGG	0.522																																						uc002lis.2		NA																	0					0						c.(2290-2292)GAT>CAT		PH domain and leucine rich repeat protein							169.0	161.0	164.0					18																	60642700		2018	4193	6211	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642700G>C	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3826G>C	18.37:g.60642700G>C	ENSP00000262719:p.Asp1276His						p.D764H	NM_194449	NP_919431	O60346	PHLP1_HUMAN			17	2468	+			1276			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2290G>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554810	0.86231	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.29917	1.67;1.55	5.18	5.18	0.71444	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.52175	0.1718	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.46652	-0.9176	9	0.48119	T	0.1	-29.0747	18.8662	0.92293	0.0:0.0:1.0:0.0	.	1276	O60346	PHLP1_HUMAN	H	764;1276	ENSP00000383170:D764H;ENSP00000262719:D1276H	ENSP00000262719:D1276H	D	+	1	0	PHLPP1	58793680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.827000	0.86722	2.693000	0.91896	0.555000	0.69702	GAT		0.522	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		64	97	0	0	0	0	64	97				
PHLPP1	23239	broad.mit.edu	37	18	60642822	60642822	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:60642822G>A	ENST00000262719.5	+	16	4182	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	PHLPP1_ENST00000400316.4_Silent_p.L804L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1316	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AAGAAGAGCTGAAGAGGATTA	0.502																																						uc002lis.2		NA																	0					0						c.(2410-2412)CTG>CTA		PH domain and leucine rich repeat protein							125.0	119.0	121.0					18																	60642822		1991	4176	6167	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642822G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3948G>A	18.37:g.60642822G>A							p.L804L	NM_194449	NP_919431	O60346	PHLP1_HUMAN			17	2590	+			1316			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2412G>A	CCDS45881.2																																																																																				0.502	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		51	87	0	0	0	0	51	87				
VPS4B	9525	broad.mit.edu	37	18	61064456	61064456	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:61064456C>T	ENST00000238497.5	-	9	1106	c.903G>A	c.(901-903)ccG>ccA	p.P301P	VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	301					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CATGGGGTTCCGGCAAGGGAA	0.393																																						uc002lix.2		NA																	0				ovary(1)	1						c.(901-903)CCG>CCA		vacuolar protein sorting factor 4B							53.0	55.0	54.0					18																	61064456		2203	4300	6503	SO:0001819	synonymous_variant	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61064456C>T	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.903G>A	18.37:g.61064456C>T						VPS4B_uc010dpx.2_Silent_p.P301P|VPS4B_uc010dpy.2_Silent_p.P183P|VPS4B_uc010dpz.1_Silent_p.P183P	p.P301P	NM_004869	NP_004860	O75351	VPS4B_HUMAN			9	1163	-			301					Q69HW4|Q9GZS7	Silent	SNP	ENST00000238497.5	37	c.903G>A	CCDS11983.1																																																																																				0.393	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		6	58	0	0	0	0	6	58				
ZNF407	55628	broad.mit.edu	37	18	72344264	72344264	+	Missense_Mutation	SNP	G	G	A	rs550259189	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr18:72344264G>A	ENST00000299687.5	+	1	1289	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	ZNF407_ENST00000577538.1_Missense_Mutation_p.R430Q|ZNF407_ENST00000309902.6_Missense_Mutation_p.R430Q|ZNF407_ENST00000582337.1_Missense_Mutation_p.R430Q	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTTCGTCGACGAAGCAGCACT	0.428													G|||	3	0.000599042	0.0	0.0	5008	,	,		21398	0.0		0.0	False		,,,				2504	0.0031					uc002llw.2		NA																	0				ovary(2)	2						c.(1288-1290)CGA>CAA		zinc finger protein 407 isoform 1							67.0	68.0	68.0					18																	72344264		1886	4133	6019	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344264G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1289G>A	18.37:g.72344264G>A	ENSP00000299687:p.Arg430Gln					ZNF407_uc010xfc.1_Missense_Mutation_p.R430Q|ZNF407_uc010dqu.1_Missense_Mutation_p.R430Q|ZNF407_uc002llu.2_Missense_Mutation_p.R429Q	p.R430Q	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1346	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	430					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1289G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890172	0.72524	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11712	2.75;3.16	5.39	3.54	0.40534	.	4.886000	0.03185	U	0.172559	T	0.16981	0.0408	L	0.55481	1.735	0.09310	N	1	P;D;B	0.56035	0.576;0.974;0.138	B;P;B	0.45406	0.048;0.479;0.016	T	0.26360	-1.0105	10	0.54805	T	0.06	.	6.2477	0.20827	0.1718:0.166:0.6623:0.0	.	430;430;430	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	Q	430	ENSP00000299687:R430Q;ENSP00000310359:R430Q	ENSP00000299687:R430Q	R	+	2	0	ZNF407	70473252	0.002000	0.14202	0.000000	0.03702	0.978000	0.69477	1.161000	0.31773	-1.153000	0.02829	0.528000	0.53228	CGA		0.428	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		44	52	0	0	0	0	44	52				
POLRMT	5442	broad.mit.edu	37	19	619625	619625	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:619625C>A	ENST00000588649.2	-	13	3111	c.3027G>T	c.(3025-3027)caG>caT	p.Q1009H	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1009	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTCAATCTGCAGGCGCC	0.612																																						uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(3025-3027)CAG>CAT		mitochondrial DNA-directed RNA polymerase							53.0	58.0	56.0					19																	619625		2203	4299	6502	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619625C>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3027G>T	19.37:g.619625C>A	ENSP00000465759:p.Gln1009His						p.Q1009H	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	3083	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1009			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.3027G>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	15.27	2.783773	0.49891	.	.	ENSG00000099821	ENST00000215591	T	0.54675	0.56	3.91	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81707	-0.0810	10	0.87932	D	0	-41.1318	10.356	0.43964	0.0:0.9031:0.0:0.0969	.	1009	O00411	RPOM_HUMAN	H	1009	ENSP00000215591:Q1009H	ENSP00000215591:Q1009H	Q	-	3	2	POLRMT	570625	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	3.522000	0.53480	0.861000	0.35504	0.462000	0.41574	CAG		0.612	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		27	51	1	0	7.76e-22	8.6e-22	27	51				
CNN2	1265	broad.mit.edu	37	19	1032417	1032417	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1032417C>G	ENST00000263097.4	+	3	575	c.212C>G	c.(211-213)tCc>tGc	p.S71C	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.S71C|CNN2_ENST00000348419.3_Missense_Mutation_p.S71C|CNN2_ENST00000562958.2_Missense_Mutation_p.S71C	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	71	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGGGCTCCGTCCCCAAG	0.622																																						uc002lqu.2		NA																	0					0						c.(211-213)TCC>TGC		calponin 2 isoform a							102.0	101.0	102.0					19																	1032417		2203	4300	6503	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1032417C>G	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.212C>G	19.37:g.1032417C>G	ENSP00000263097:p.Ser71Cys					CNN2_uc002lqt.1_Missense_Mutation_p.S71C|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Missense_Mutation_p.S71C|CNN2_uc010xgb.1_Missense_Mutation_p.S71C|CNN2_uc010xgc.1_Missense_Mutation_p.S71C	p.S71C	NM_004368	NP_004359	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	575	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	71			CH.		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.212C>G	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008987	0.75046	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	D;D	0.95205	-3.64;-3.64	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	D	0.96497	0.8857	M	0.70275	2.135	0.50632	D	0.999883	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.996;0.998	D;D;D;D;D	0.77557	0.987;0.99;0.99;0.964;0.99	D	0.96812	0.9597	10	0.66056	D	0.02	.	13.759	0.62954	0.0:1.0:0.0:0.0	.	71;71;71;71;71	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	C	71;71;50	ENSP00000263097:S71C;ENSP00000340129:S71C	ENSP00000263097:S71C	S	+	2	0	CNN2	983417	1.000000	0.71417	0.994000	0.49952	0.843000	0.47879	5.622000	0.67750	1.827000	0.53221	0.306000	0.20318	TCC		0.622	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		40	67	0	0	0	0	40	67				
REXO1	57455	broad.mit.edu	37	19	1828053	1828053	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:1828053G>A	ENST00000170168.4	-	2	829	c.735C>T	c.(733-735)ctC>ctT	p.L245L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	245						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCCTGCTGAGGTGCCGGG	0.677																																						uc002lua.3		NA																	0					0						c.(733-735)CTC>CTT		transcription elongation factor B polypeptide 3							28.0	32.0	30.0					19																	1828053		2200	4286	6486	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828053G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.735C>T	19.37:g.1828053G>A						REXO1_uc010dsr.1_Silent_p.L199L	p.L245L	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	830	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	245					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.735C>T	CCDS32866.1																																																																																				0.677	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		23	43	0	0	0	0	23	43				
SGTA	6449	broad.mit.edu	37	19	2759262	2759262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2759262G>A	ENST00000221566.2	-	9	891	c.730C>T	c.(730-732)Cag>Tag	p.Q244*		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	244					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAGCTGCTGAATCTGGGGA	0.393																																						uc002lwi.1		NA																	0				ovary(1)	1						c.(730-732)CAG>TAG		small glutamine-rich tetratricopeptide							134.0	140.0	138.0					19																	2759262		2203	4300	6503	SO:0001587	stop_gained	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2759262G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.730C>T	19.37:g.2759262G>A	ENSP00000221566:p.Gln244*						p.Q244*	NM_003021	NP_003012	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	877	-		Hepatocellular(1079;0.137)	244					D6W610|Q6FIA9|Q9BTZ9	Nonsense_Mutation	SNP	ENST00000221566.2	37	c.730C>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705217	0.89018	.	.	ENSG00000104969	ENST00000221566	.	.	.	4.05	4.05	0.47172	.	0.129725	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-4.7837	14.7987	0.69898	0.0:0.0:1.0:0.0	.	.	.	.	X	244	.	ENSP00000221566:Q244X	Q	-	1	0	SGTA	2710262	1.000000	0.71417	0.743000	0.31040	0.309000	0.27889	8.493000	0.90474	1.805000	0.52779	0.561000	0.74099	CAG		0.393	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		62	145	0	0	0	0	62	145				
ZNF555	148254	broad.mit.edu	37	19	2851477	2851477	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:2851477C>G	ENST00000334241.4	+	3	280	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	ZNF555_ENST00000591539.1_Missense_Mutation_p.Q48E|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	48	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGAAACTCAATTTAAGGC	0.393																																						uc002lwo.2		NA																	0				ovary(1)	1						c.(142-144)CAA>GAA		zinc finger protein 555							63.0	61.0	62.0					19																	2851477		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2851477C>G	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.142C>G	19.37:g.2851477C>G	ENSP00000334853:p.Gln48Glu					ZNF555_uc002lwn.3_Missense_Mutation_p.Q48E	p.Q48E	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	231	+			48			KRAB.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.142C>G	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.274701	0.00257	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.00768	5.72	2.81	-1.28	0.09318	Krueppel-associated box (3);	.	.	.	.	T	0.00468	0.0015	N	0.17278	0.47	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12156	0.003;0.007	T	0.46638	-0.9177	9	0.02654	T	1	.	2.5087	0.04652	0.2292:0.4826:0.0:0.2882	.	48;48	Q8NEP9;A8KA89	ZN555_HUMAN;.	E	48	ENSP00000334853:Q48E	ENSP00000334853:Q48E	Q	+	1	0	ZNF555	2802477	0.000000	0.05858	0.002000	0.10522	0.698000	0.40448	-0.032000	0.12266	0.070000	0.16634	-0.300000	0.09419	CAA		0.393	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		18	25	0	0	0	0	18	25				
MUC16	94025	broad.mit.edu	37	19	9066076	9066076	+	Missense_Mutation	SNP	G	G	A	rs201097594		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:9066076G>A	ENST00000397910.4	-	3	21573	c.21370C>T	c.(21370-21372)Ctt>Ttt	p.L7124F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7126	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACAGGAAGAGGAGAGGAG	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22713	0.0		0.0	False		,,,				2504	0.0					uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21370-21372)CTT>TTT		mucin 16		G	PHE/LEU	1,4115		0,1,2057	202.0	189.0	193.0		21370	-3.1	0.0	19		193	2,8400		0,2,4199	yes	missense	MUC16	NM_024690.2	22	0,3,6256	AA,AG,GG		0.0238,0.0243,0.024	possibly-damaging	7124/14508	9066076	3,12515	2058	4201	6259	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066076G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21370C>T	19.37:g.9066076G>A	ENSP00000381008:p.Leu7124Phe						p.L7124F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21574	-			7126			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21370C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.864	-0.235428	0.05983	2.43E-4	2.38E-4	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.62	-3.11	0.05299	.	.	.	.	.	T	0.11324	0.0276	N	0.12182	0.205	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.23583	-1.0184	8	0.87932	D	0	.	2.9118	0.05739	0.1187:0.3221:0.4105:0.1486	.	7124	B5ME49	.	F	7124	ENSP00000381008:L7124F	ENSP00000381008:L7124F	L	-	1	0	MUC16	8927076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.565000	0.00429	-0.935000	0.03728	-1.478000	0.00992	CTT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	89	0	0	0	0	35	89				
COL5A3	50509	broad.mit.edu	37	19	10104345	10104345	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:10104345C>T	ENST00000264828.3	-	18	1730	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	549	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAGCCACGATCACCCTGTCCA	0.587																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1645-1647)GAT>AAT		collagen, type V, alpha 3 preproprotein							168.0	140.0	150.0					19																	10104345		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10104345C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1645G>A	19.37:g.10104345C>T	ENSP00000264828:p.Asp549Asn						p.D549N	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		18	1731	-			549			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1645G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621837	0.87460	.	.	ENSG00000080573	ENST00000264828	D	0.93547	-3.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.94026	0.8086	N	0.25789	0.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93356	0.6722	10	0.35671	T	0.21	.	17.0482	0.86510	0.0:1.0:0.0:0.0	.	549	P25940	CO5A3_HUMAN	N	549	ENSP00000264828:D549N	ENSP00000264828:D549N	D	-	1	0	COL5A3	9965345	1.000000	0.71417	0.958000	0.39756	0.956000	0.61745	4.979000	0.63806	2.634000	0.89283	0.563000	0.77884	GAT		0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		18	47	0	0	0	0	18	47				
RGL3	57139	broad.mit.edu	37	19	11517470	11517470	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11517470G>A	ENST00000380456.3	-	6	771	c.708C>T	c.(706-708)ctC>ctT	p.L236L	Y_RNA_ENST00000365487.1_RNA|RGL3_ENST00000393423.3_Silent_p.L236L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	236					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTTGAGGCATGAGCCCTTCCT	0.577																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	0				ovary(1)	1						c.(706-708)CTC>CTT		ral guanine nucleotide dissociation							58.0	53.0	55.0					19																	11517470		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11517470G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.708C>T	19.37:g.11517470G>A						RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.L236L	p.L236L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			6	772	-			236					B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.708C>T	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294246	0.23564	.	.	ENSG00000205517	ENST00000453604	.	.	.	3.86	-5.16	0.02857	.	.	.	.	.	T	0.17789	0.0427	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	5	0.31617	T	0.26	.	0.5217	0.00613	0.2069:0.2775:0.255:0.2606	.	.	.	.	Y	155	.	ENSP00000391460:H155Y	H	-	1	0	RGL3	11378470	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.467000	0.00993	-0.300000	0.08895	-0.218000	0.12543	CAT		0.577	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		22	34	0	0	0	0	22	34				
ECSIT	51295	broad.mit.edu	37	19	11618651	11618651	+	Missense_Mutation	SNP	C	C	T	rs373495105		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11618651C>T	ENST00000270517.7	-	6	946	c.811G>A	c.(811-813)Gat>Aat	p.D271N	ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.D57N|ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000592312.1_Silent_p.P201P|ECSIT_ENST00000588998.1_Intron|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000591104.1_Intron|CTC-398G3.6_ENST00000585656.1_5'Flank	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	271					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGCTGATCGGGACTCTGG	0.632																																						uc002msb.2		NA																	0				ovary(1)	1						c.(811-813)GAT>AAT		evolutionarily conserved signaling intermediate		C	,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	30.0	34.0	33.0		,169,811	4.8	0.7	19		33	0,8600		0,0,4300	no	intron,missense,missense	ECSIT	NM_001142464.2,NM_001142465.2,NM_016581.4	,23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign	,57/218,271/432	11618651	1,13005	2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618651C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.811G>A	19.37:g.11618651C>T	ENSP00000270517:p.Asp271Asn					ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_Intron|ECSIT_uc010dyd.2_Intron|ECSIT_uc010xma.1_Missense_Mutation_p.D57N	p.D271N	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN			6	945	-			271					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.811G>A	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220855	0.39201	2.27E-4	0.0	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.42131	0.98;0.98	4.83	4.83	0.62350	.	0.529047	0.21593	N	0.072067	T	0.27524	0.0676	L	0.41824	1.3	0.80722	D	1	P;P	0.42357	0.777;0.47	B;B	0.29267	0.1;0.063	T	0.08106	-1.0738	10	0.35671	T	0.21	-8.9414	10.4031	0.44241	0.0:0.9082:0.0:0.0918	.	57;271	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	N	271;57	ENSP00000270517:D271N;ENSP00000412712:D57N	ENSP00000270517:D271N	D	-	1	0	ECSIT	11479651	0.925000	0.31364	0.669000	0.29828	0.900000	0.52787	2.802000	0.47916	2.216000	0.71823	0.491000	0.48974	GAT		0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		14	30	0	0	0	0	14	30				
ZNF69	7620	broad.mit.edu	37	19	11998761	11998761	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:11998761G>T	ENST00000429654.2	+	1	163	c.23G>T	c.(22-24)aGg>aTg	p.R8M	ZNF69_ENST00000340180.5_Missense_Mutation_p.R8M			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	8					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(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AGTCACAGGAGGTGTAGAGAG	0.637																																						uc002mst.3		NA																	0				skin(1)	1						c.(22-24)AGG>ATG		zinc finger protein 69							81.0	70.0	74.0					19																	11998761		2203	4300	6503	SO:0001583	missense	7620					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:11998761G>T	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.23G>T	19.37:g.11998761G>T	ENSP00000402985:p.Arg8Met						p.R8M	NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN		Lung(535;0.011)	1	92	+			8					Q86VA7	Missense_Mutation	SNP	ENST00000429654.2	37	c.23G>T		.	.	.	.	.	.	.	.	.	.	g	10.52	1.372554	0.24857	.	.	ENSG00000198429	ENST00000429654;ENST00000445911;ENST00000340180	T;T;T	0.08807	3.05;4.26;4.31	0.618	-0.67	0.11384	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.20384	0.029	T	0.39702	-0.9601	8	0.59425	D	0.04	.	.	.	.	.	8	C9JR48	.	M	8	ENSP00000402985:R8M;ENSP00000388784:R8M;ENSP00000345333:R8M	ENSP00000345333:R8M	R	+	2	0	ZNF69	11859761	0.006000	0.16342	0.001000	0.08648	0.616000	0.37450	1.090000	0.30902	-0.228000	0.09869	0.205000	0.17691	AGG		0.637	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		15	41	1	0	4.75e-09	5.07e-09	15	41				
ZNF700	90592	broad.mit.edu	37	19	12060754	12060754	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:12060754G>A	ENST00000254321.5	+	4	2058	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	ZNF700_ENST00000482090.1_Missense_Mutation_p.E621K|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAGATGCATGAAAGGACTCA	0.423																																						uc002msu.2		NA																	0					0						c.(1915-1917)GAA>AAA		zinc finger protein 700							76.0	76.0	76.0					19																	12060754		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060754G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1915G>A	19.37:g.12060754G>A	ENSP00000254321:p.Glu639Lys					ZNF700_uc010xme.1_Missense_Mutation_p.E657K|ZNF763_uc010xmf.1_Intron	p.E639K	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	2041	+			639			C2H2-type 15.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1915G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	5.463	0.270515	0.10349	.	.	ENSG00000196757	ENST00000254321	T	0.07327	3.2	0.681	-0.535	0.11879	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.20530	0.585	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.40496	-0.9560	9	0.44086	T	0.13	.	3.5397	0.07807	0.2297:0.4511:0.3192:0.0	.	639	Q9H0M5	ZN700_HUMAN	K	639	ENSP00000254321:E639K	ENSP00000254321:E639K	E	+	1	0	ZNF700	11921754	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.273000	0.08548	-0.192000	0.10432	0.313000	0.20887	GAA		0.423	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		32	62	0	0	0	0	32	62				
PRKACA	5566	broad.mit.edu	37	19	14203941	14203941	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14203941C>G	ENST00000308677.4	-	10	1235	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	SAMD1_ENST00000541938.1_5'Flank|PRKACA_ENST00000589994.1_Missense_Mutation_p.E339Q|SAMD1_ENST00000533683.2_5'Flank|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	347	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|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)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TCAGAAAACTCCTTGCCACAC	0.468																																						uc002myc.2		NA																	0				lung(1)	1						c.(1039-1041)GAG>CAG		cAMP-dependent protein kinase catalytic subunit							65.0	52.0	56.0					19																	14203941		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14203941C>G		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.1039G>C	19.37:g.14203941C>G	ENSP00000309591:p.Glu347Gln					SAMD1_uc010xnl.1_5'Flank|PRKACA_uc002myb.2_Missense_Mutation_p.E339Q	p.E347Q	NM_002730	NP_002721	P17612	KAPCA_HUMAN			10	1239	-			347			AGC-kinase C-terminal.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.1039G>C	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041054	0.55003	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	T	0.67698	-0.28	4.08	4.08	0.47627	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.45867	D	0.000331	T	0.72969	0.3527	M	0.74467	2.265	0.44908	D	0.997922	B;P	0.48694	0.428;0.914	P;P	0.51079	0.559;0.658	T	0.72683	-0.4219	10	0.30078	T	0.28	.	14.2262	0.65860	0.0:1.0:0.0:0.0	.	347;339	P17612;P17612-2	KAPCA_HUMAN;.	Q	347;339;347	ENSP00000309591:E347Q	ENSP00000309591:E347Q	E	-	1	0	PRKACA	14064941	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.451000	0.80668	2.296000	0.77279	0.423000	0.28283	GAG		0.468	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		12	21	0	0	0	0	12	21				
TECR	9524	broad.mit.edu	37	19	14676041	14676041	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:14676041C>T	ENST00000215567.5	+	11	829	c.692C>T	c.(691-693)cCc>cTc	p.P231L	TECR_ENST00000436007.2_Missense_Mutation_p.P246L|TECR_ENST00000596073.1_Missense_Mutation_p.P76L|TECR_ENST00000600083.1_Missense_Mutation_p.P76L	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	231					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						ATCCCATACCCCACCAAGAAC	0.637																																						uc002mza.2		NA																	0					0						c.(691-693)CCC>CTC		glycoprotein, synaptic 2							99.0	98.0	98.0					19																	14676041		2203	4300	6503	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14676041C>T	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.692C>T	19.37:g.14676041C>T	ENSP00000215567:p.Pro231Leu					TECR_uc002mzb.2_Missense_Mutation_p.P246L|TECR_uc010xns.1_Missense_Mutation_p.P76L|TECR_uc002mzc.2_Missense_Mutation_p.P76L|TECR_uc002mzd.2_Missense_Mutation_p.P261L|TECR_uc002mze.2_Missense_Mutation_p.P57L|TECR_uc002mzf.1_Missense_Mutation_p.P45L	p.P231L	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN			11	819	+			231					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.692C>T	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791094	0.70452	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.27104	1.7;1.69	4.03	4.03	0.46877	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.81614	2.55	0.80722	D	1	P;B;B;B	0.37441	0.595;0.205;0.315;0.205	P;B;B;B	0.46850	0.529;0.2;0.2;0.2	T	0.50866	-0.8777	10	0.87932	D	0	-10.7602	13.6911	0.62547	0.0:1.0:0.0:0.0	.	76;231;246;231	B4DR74;B3KM97;B3KSQ1;Q9NZ01	.;.;.;TECR_HUMAN	L	231;246	ENSP00000215567:P231L;ENSP00000397206:P246L	ENSP00000215567:P231L	P	+	2	0	TECR	14537041	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.097000	0.76967	1.807000	0.52817	0.555000	0.69702	CCC		0.637	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		39	60	0	0	0	0	39	60				
SYDE1	85360	broad.mit.edu	37	19	15224468	15224468	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15224468G>A	ENST00000342784.2	+	8	1933	c.1902G>A	c.(1900-1902)gtG>gtA	p.V634V	SYDE1_ENST00000600252.1_Silent_p.V291V|SYDE1_ENST00000600440.1_Silent_p.V567V	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	634					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAAGTGGTGACTCGGCCCC	0.697																																						uc002nah.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1900-1902)GTG>GTA		synapse defective 1, Rho GTPase, homolog 1							53.0	65.0	61.0					19																	15224468		2203	4298	6501	SO:0001819	synonymous_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224468G>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1902G>A	19.37:g.15224468G>A						SYDE1_uc002nai.1_Silent_p.V567V|SYDE1_uc002naj.1_Silent_p.V291V	p.V634V	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN			8	1933	+			634					Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	c.1902G>A	CCDS12324.1																																																																																				0.697	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		38	81	0	0	0	0	38	81				
NOTCH3	4854	broad.mit.edu	37	19	15292503	15292503	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15292503C>G	ENST00000263388.2	-	17	2751	c.2676G>C	c.(2674-2676)ctG>ctC	p.L892L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	892	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGGTTGCTCAGGCACTCAT	0.677																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(2674-2676)CTG>CTC		Notch homolog 3 precursor							25.0	22.0	23.0					19																	15292503		2178	4282	6460	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15292503C>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2676G>C	19.37:g.15292503C>G						NOTCH3_uc002nao.1_Silent_p.L840L	p.L892L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		17	2752	-			892			Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.2676G>C	CCDS12326.1																																																																																				0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	1	0	0	0	0	3	1				
PGLYRP2	114770	broad.mit.edu	37	19	15586745	15586745	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:15586745C>T	ENST00000340880.4	-	2	1216	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.E246K	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	246					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCAGCCCTCAGTTCCCAGG	0.617																																						uc002nbf.3		NA																	0				ovary(3)	3						c.(736-738)GAG>AAG		peptidoglycan recognition protein 2 precursor							42.0	41.0	41.0					19																	15586745		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586745C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.736G>A	19.37:g.15586745C>T	ENSP00000345968:p.Glu246Lys					PGLYRP2_uc002nbg.3_Missense_Mutation_p.E246K	p.E246K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	869	-			246					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.736G>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982690	0.53827	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04758	3.57;3.56	5.31	5.31	0.75309	.	0.436856	0.22071	N	0.065021	T	0.09468	0.0233	L	0.54323	1.7	0.38105	D	0.937376	B;B	0.32753	0.383;0.151	B;B	0.38880	0.284;0.085	T	0.14755	-1.0461	10	0.40728	T	0.16	-9.3227	16.4802	0.84156	0.0:1.0:0.0:0.0	.	246;246	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	K	246	ENSP00000345968:E246K;ENSP00000292609:E246K	ENSP00000292609:E246K	E	-	1	0	PGLYRP2	15447745	0.951000	0.32395	0.918000	0.36340	0.091000	0.18340	2.574000	0.46016	2.500000	0.84329	0.561000	0.74099	GAG		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		22	40	0	0	0	0	22	40				
SLC27A1	376497	broad.mit.edu	37	19	17608070	17608070	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17608070C>G	ENST00000252595.7	+	7	1100	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E	SLC27A1_ENST00000442725.1_Missense_Mutation_p.Q335E|SLC27A1_ENST00000598424.1_Missense_Mutation_p.Q156E|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	335	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCAGGTGGTTCAGTACATCGG	0.711																																						uc002ngu.1		NA																	0					0						c.(1003-1005)CAG>GAG		solute carrier family 27, member 1							35.0	30.0	32.0					19																	17608070		2203	4298	6501	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608070C>G	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1003C>G	19.37:g.17608070C>G	ENSP00000252595:p.Gln335Glu					SLC27A1_uc002ngt.1_Missense_Mutation_p.Q67E|SLC27A1_uc010xpp.1_Missense_Mutation_p.Q156E|SLC27A1_uc002ngv.1_5'UTR	p.Q335E	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			7	1053	+			335			Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1003C>G	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509677	0.85282	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.49720	0.77;0.77	4.45	4.45	0.53987	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.91768	3.24	0.58432	D	0.999993	P;P;P	0.52463	0.953;0.787;0.787	P;P;P	0.56042	0.79;0.626;0.626	T	0.78409	-0.2215	10	0.66056	D	0.02	-6.9879	14.6274	0.68632	0.0:1.0:0.0:0.0	.	156;335;335	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	E	335	ENSP00000413424:Q335E;ENSP00000252595:Q335E	ENSP00000252595:Q335E	Q	+	1	0	SLC27A1	17469070	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.347000	0.79356	2.016000	0.59253	0.456000	0.33151	CAG		0.711	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		10	19	0	0	0	0	10	19				
B3GNT3	10331	broad.mit.edu	37	19	17918980	17918980	+	Missense_Mutation	SNP	C	C	T	rs577972524	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:17918980C>T	ENST00000318683.6	+	2	511	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R122C	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	122					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAACTATGTGCGCCGCGAGCT	0.677																																						uc002nhk.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(364-366)CGC>TGC		UDP-GlcNAc:betaGal							24.0	23.0	24.0					19																	17918980		2201	4299	6500	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918980C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.364C>T	19.37:g.17918980C>T	ENSP00000321874:p.Arg122Cys					B3GNT3_uc002nhl.1_Missense_Mutation_p.R122C|B3GNT3_uc010ebd.1_Missense_Mutation_p.R122C|B3GNT3_uc010ebe.1_Missense_Mutation_p.R122C	p.R122C	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	449	+			122			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.364C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268505	0.40095	.	.	ENSG00000179913	ENST00000318683	T	0.55930	0.49	3.76	2.67	0.31697	.	0.000000	0.85682	U	0.000000	T	0.76378	0.3979	H	0.95365	3.66	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.79463	-0.1793	10	0.87932	D	0	.	7.5731	0.27920	0.4648:0.5352:0.0:0.0	.	122	Q9Y2A9	B3GN3_HUMAN	C	122	ENSP00000321874:R122C	ENSP00000321874:R122C	R	+	1	0	B3GNT3	17779980	1.000000	0.71417	0.518000	0.27811	0.021000	0.10359	1.732000	0.38146	1.648000	0.50643	0.478000	0.44815	CGC		0.677	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		3	24	0	0	0	0	3	24				
UPF1	5976	broad.mit.edu	37	19	18956861	18956861	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18956861G>A	ENST00000599848.1	+	2	513	c.304G>A	c.(304-306)Gag>Aag	p.E102K	UPF1_ENST00000262803.5_Missense_Mutation_p.E102K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	102	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTTGTTGGCTGAGTTGAACTT	0.577																																						uc002nkg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(304-306)GAG>AAG		regulator of nonsense transcripts 1							134.0	99.0	111.0					19																	18956861		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18956861G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.304G>A	19.37:g.18956861G>A	ENSP00000470142:p.Glu102Lys					UPF1_uc002nkf.2_Missense_Mutation_p.E102K	p.E102K	NM_002911	NP_002902	Q92900	RENT1_HUMAN			2	579	+			102			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.304G>A		.	.	.	.	.	.	.	.	.	.	G	19.65	3.866969	0.72065	.	.	ENSG00000005007	ENST00000262803	D	0.90069	-2.61	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.59436	1.845	0.80722	D	1	P;P	0.44429	0.745;0.835	B;B	0.42522	0.276;0.39	D	0.87123	0.2192	10	0.31617	T	0.26	-47.0477	17.2949	0.87168	0.0:0.0:1.0:0.0	.	102;102	Q92900;Q92900-2	RENT1_HUMAN;.	K	102	ENSP00000262803:E102K	ENSP00000262803:E102K	E	+	1	0	UPF1	18817861	1.000000	0.71417	0.950000	0.38849	0.575000	0.36095	9.397000	0.97276	2.328000	0.79073	0.655000	0.94253	GAG		0.577	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		23	26	0	0	0	0	23	26				
UPF1	5976	broad.mit.edu	37	19	18967806	18967806	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:18967806C>A	ENST00000599848.1	+	14	2187	c.1978C>A	c.(1978-1980)Ccc>Acc	p.P660T	UPF1_ENST00000262803.5_Missense_Mutation_p.P649T			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	660					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGCATGGTTCCCGTGGTCCT	0.582																																						uc002nkg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1978-1980)CCC>ACC		regulator of nonsense transcripts 1							74.0	72.0	73.0					19																	18967806		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18967806C>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1978C>A	19.37:g.18967806C>A	ENSP00000470142:p.Pro660Thr					UPF1_uc002nkf.2_Missense_Mutation_p.P649T|UPF1_uc002nkh.2_5'Flank	p.P660T	NM_002911	NP_002902	Q92900	RENT1_HUMAN			14	2253	+			660					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1978C>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.292085	0.80914	.	.	ENSG00000005007	ENST00000262803	D	0.92699	-3.09	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.99478	1.0947	10	0.87932	D	0	-19.5919	15.9632	0.79948	0.0:1.0:0.0:0.0	.	660;649	Q92900;Q92900-2	RENT1_HUMAN;.	T	649	ENSP00000262803:P649T	ENSP00000262803:P649T	P	+	1	0	UPF1	18828806	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.265000	0.78442	2.006000	0.58801	0.491000	0.48974	CCC		0.582	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		39	63	1	0	2.55e-27	2.84e-27	39	63				
ZNF99	7652	broad.mit.edu	37	19	22940553	22940553	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22940553G>C	ENST00000596209.1	-	4	2248	c.2158C>G	c.(2158-2160)Ctt>Gtt	p.L720V	ZNF99_ENST00000397104.3_Missense_Mutation_p.L629V|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	720					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTTCTAAGAGTTGAGGAC	0.363																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1885-1887)CTT>GTT		zinc finger protein 99							40.0	43.0	42.0					19																	22940553		2081	4217	6298	SO:0001583	missense	7652							g.chr19:22940553G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2158C>G	19.37:g.22940553G>C	ENSP00000472969:p.Leu720Val						p.L629V	NM_001080409	NP_001073878					5	1885	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1885C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	9.237	1.037236	0.19669	.	.	ENSG00000213973	ENST00000397104	T	0.52983	0.64	0.726	0.726	0.18248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63379	0.2506	M	0.71871	2.18	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50285	-0.8846	9	0.66056	D	0.02	.	8.9692	0.35897	0.0:0.0:1.0:0.0	.	629	A8MXY4	ZNF99_HUMAN	V	629	ENSP00000380293:L629V	ENSP00000380293:L629V	L	-	1	0	ZNF99	22732393	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.199000	0.09491	0.680000	0.31366	0.400000	0.26472	CTT		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		24	49	0	0	0	0	24	49				
ZNF99	7652	broad.mit.edu	37	19	22952052	22952052	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:22952052C>A	ENST00000596209.1	-	2	168	c.78G>T	c.(76-78)caG>caT	p.Q26H	ZNF99_ENST00000397104.3_Missense_Mutation_p.Q47H	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	26	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)	p.Q47H(1)|p.Q47Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATATAAATTCTGCTGAGCCA	0.383																																						uc010xrh.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|skin(1)	2						c.(139-141)CAG>CAT		zinc finger protein 99							77.0	84.0	81.0					19																	22952052		2201	4300	6501	SO:0001583	missense	7652							g.chr19:22952052C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.78G>T	19.37:g.22952052C>A	ENSP00000472969:p.Gln26His						p.Q47H	NM_001080409	NP_001073878					2	141	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.141G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	10.47	1.359934	0.24598	.	.	ENSG00000213973	ENST00000397104	T	0.01838	4.61	1.05	-0.674	0.11369	Krueppel-associated box (4);	.	.	.	.	T	0.10508	0.0257	M	0.89715	3.055	0.09310	N	1	D	0.64830	0.994	D	0.64877	0.93	T	0.09292	-1.0681	9	0.72032	D	0.01	.	3.626	0.08113	0.0:0.6771:0.0:0.3229	.	47	A8MXY4	ZNF99_HUMAN	H	47	ENSP00000380293:Q47H	ENSP00000380293:Q47H	Q	-	3	2	ZNF99	22743892	0.006000	0.16342	0.065000	0.19835	0.059000	0.15707	0.375000	0.20518	-0.354000	0.08212	-0.350000	0.07774	CAG		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		41	74	1	0	5.45e-19	6.01e-19	41	74				
DPY19L3	147991	broad.mit.edu	37	19	32949405	32949405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:32949405C>T	ENST00000342179.5	+	12	1527	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	DPY19L3_ENST00000586987.1_Missense_Mutation_p.H438Y|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.H438Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	438						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTTGCCTTTCATAATCTCAG	0.348																																						uc002ntg.2		NA																	0				ovary(4)	4						c.(1312-1314)CAT>TAT		dpy-19-like 3							190.0	189.0	190.0					19																	32949405		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32949405C>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1312C>T	19.37:g.32949405C>T	ENSP00000344937:p.His438Tyr					DPY19L3_uc002nth.1_Missense_Mutation_p.H438Y|DPY19L3_uc002nti.1_RNA	p.H438Y	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			12	1488	+	Esophageal squamous(110;0.162)		438					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1312C>T	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021602	0.35701	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54675	0.56;0.56	6.04	6.04	0.98038	.	0.506014	0.23554	N	0.046921	T	0.37758	0.1015	N	0.14661	0.345	0.23411	N	0.997731	B	0.30937	0.301	B	0.28385	0.089	T	0.39941	-0.9589	10	0.52906	T	0.07	-1.7495	15.3674	0.74535	0.1394:0.8606:0.0:0.0	.	438	Q6ZPD9	D19L3_HUMAN	Y	438	ENSP00000376081:H438Y;ENSP00000344937:H438Y	ENSP00000315672:H438Y	H	+	1	0	DPY19L3	37641245	0.960000	0.32886	1.000000	0.80357	0.580000	0.36256	2.534000	0.45676	2.881000	0.98747	0.650000	0.86243	CAT		0.348	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		81	117	0	0	0	0	81	117				
PDCD2L	84306	broad.mit.edu	37	19	34904736	34904736	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:34904736C>G	ENST00000246535.3	+	5	828	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	261					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCTGCTTGTCAGGAGCAGAT	0.328																																						uc002nvj.2		NA																	0				ovary(1)	1						c.(781-783)CAG>GAG		programmed cell death 2-like							110.0	119.0	116.0					19																	34904736		2203	4300	6503	SO:0001583	missense	84306					cytoplasm		g.chr19:34904736C>G	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.781C>G	19.37:g.34904736C>G	ENSP00000246535:p.Gln261Glu						p.Q261E	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		5	814	+	Esophageal squamous(110;0.162)		261						Missense_Mutation	SNP	ENST00000246535.3	37	c.781C>G	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306994	0.60305	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.52	5.52	0.82312	Programmed cell death protein 2, C-terminal (1);	0.294543	0.38605	N	0.001627	T	0.51856	0.1699	L	0.54323	1.7	0.27088	N	0.962917	P	0.40794	0.729	P	0.44394	0.448	T	0.55302	-0.8162	9	0.87932	D	0	-10.1065	16.353	0.83224	0.0:1.0:0.0:0.0	.	261	Q9BRP1	PDD2L_HUMAN	E	261	.	ENSP00000246535:Q261E	Q	+	1	0	PDCD2L	39596576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.546000	0.67243	2.590000	0.87494	0.591000	0.81541	CAG		0.328	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		11	31	0	0	0	0	11	31				
LRFN3	79414	broad.mit.edu	37	19	36431159	36431159	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:36431159C>T	ENST00000588831.1	+	3	1886	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	LRFN3_ENST00000246529.3_Silent_p.L278L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	278	LRRCT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCACCTGCTCTGGGCGGCCG	0.711																																						uc002oco.2		NA																	0					0						c.(832-834)CTG>TTG		leucine rich repeat and fibronectin type III							10.0	12.0	11.0					19																	36431159		2048	3997	6045	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36431159C>T	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.832C>T	19.37:g.36431159C>T							p.L278L	NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	1284	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		278			LRRCT.|Extracellular (Potential).		Q6UY10	Silent	SNP	ENST00000588831.1	37	c.832C>T	CCDS12483.1																																																																																				0.711	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		8	17	0	0	0	0	8	17				
RYR1	6261	broad.mit.edu	37	19	38976417	38976417	+	Missense_Mutation	SNP	G	G	A	rs376833141		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:38976417G>A	ENST00000359596.3	+	34	5122	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	RYR1_ENST00000360985.3_Missense_Mutation_p.A1708T|RYR1_ENST00000355481.4_Missense_Mutation_p.A1708T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1708	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCACTGCGCGCAGGCTACTA	0.647																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5122-5124)GCA>ACA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						61.0	61.0	61.0					19																	38976417		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976417G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5122G>A	19.37:g.38976417G>A	ENSP00000352608:p.Ala1708Thr					RYR1_uc002oiu.2_Missense_Mutation_p.A1708T	p.A1708T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5252	+	all_cancers(60;7.91e-06)		1708			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5122G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	9.870	1.198733	0.22121	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72615	-0.67;-0.67;-0.67	3.98	3.98	0.46160	.	0.146639	0.42172	U	0.000757	T	0.53738	0.1815	N	0.13235	0.315	0.09310	N	1	D;P	0.67145	0.996;0.669	P;B	0.50490	0.642;0.18	T	0.45716	-0.9242	10	0.25751	T	0.34	.	3.4543	0.07510	0.1967:0.0:0.5907:0.2126	.	1708;1708	P21817-2;P21817	.;RYR1_HUMAN	T	1708	ENSP00000352608:A1708T;ENSP00000347667:A1708T;ENSP00000354254:A1708T	ENSP00000347667:A1708T	A	+	1	0	RYR1	43668257	0.991000	0.36638	0.084000	0.20598	0.253000	0.25986	3.647000	0.54403	2.048000	0.60808	0.585000	0.79938	GCA		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			25	44	0	0	0	0	25	44				
PLEKHG2	64857	broad.mit.edu	37	19	39915437	39915437	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39915437G>C	ENST00000409794.3	+	19	4514	c.3664G>C	c.(3664-3666)Gac>Cac	p.D1222H	PLEKHG2_ENST00000425673.1_Missense_Mutation_p.D1193H|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1163H|PLEKHG2_ENST00000409797.2_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1222					apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCTCTCTAGACATTCAGGG	0.532																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(3664-3666)GAC>CAC		common-site lymphoma/leukemia guanine nucleotide							189.0	185.0	187.0					19																	39915437		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39915437G>C	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3664G>C	19.37:g.39915437G>C	ENSP00000386733:p.Asp1222His					PLEKHG2_uc010xuy.1_Missense_Mutation_p.D1163H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.D1000H	p.D1222H	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	3989	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		1222					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.3664G>C	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.892644|2.892644	0.52121|0.52121	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.79247|.	-1.08;-1.15;-1.25|.	4.21|4.21	3.16|3.16	0.36331|0.36331	.|.	0.581623|.	0.14538|.	N|.	0.313428|.	T|.	0.52092|.	0.1713|.	M|M	0.65975|0.65975	2.015|2.015	0.26313|0.26313	N|N	0.977793|0.977793	D;D;D|.	0.65815|.	0.995;0.992;0.992|.	P;P;P|.	0.58873|.	0.847;0.707;0.707|.	T|.	0.43458|.	-0.9390|.	9|.	.|.	.|.	.|.	.|.	8.5267|8.5267	0.33309|0.33309	0.1134:0.0:0.8866:0.0|0.1134:0.0:0.8866:0.0	.|.	1193;1222;1163|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	H|Y	1222;1193;1163|1089	ENSP00000386733:D1222H;ENSP00000392906:D1193H;ENSP00000408857:D1163H|.	.|.	D|X	+|+	1|3	0|2	PLEKHG2|PLEKHG2	44607277|44607277	0.984000|0.984000	0.35163|0.35163	0.013000|0.013000	0.15412|0.15412	0.040000|0.040000	0.13550|0.13550	2.686000|2.686000	0.46968|0.46968	1.082000|1.082000	0.41137|0.41137	0.561000|0.561000	0.74099|0.74099	GAC|TAG		0.532	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		83	163	0	0	0	0	83	163				
SUPT5H	6829	broad.mit.edu	37	19	39962116	39962116	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:39962116C>T	ENST00000599117.1	+	20	2164	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	SUPT5H_ENST00000432763.2_Silent_p.I599I|SUPT5H_ENST00000402194.2_Silent_p.I595I|SUPT5H_ENST00000598725.1_Silent_p.I599I|SUPT5H_ENST00000359191.6_Silent_p.I595I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	599	KOW 4.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGAAAGACATCGTTAAGGTCA	0.512																																						uc002olo.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1795-1797)ATC>ATT		suppressor of Ty 5 homolog isoform a							165.0	132.0	143.0					19																	39962116		2203	4300	6503	SO:0001819	synonymous_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39962116C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1797C>T	19.37:g.39962116C>T						SUPT5H_uc002olp.3_Silent_p.I599I|SUPT5H_uc002olq.3_Silent_p.I595I|SUPT5H_uc002oln.3_Silent_p.I599I|SUPT5H_uc002olr.3_Silent_p.I599I|SUPT5H_uc002ols.1_Silent_p.I222I|SUPT5H_uc010egp.1_5'Flank	p.I599I	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		19	1976	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		599			KOW 4.		O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.1797C>T	CCDS12536.1																																																																																				0.512	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		29	51	0	0	0	0	29	51				
SPTBN4	57731	broad.mit.edu	37	19	40996095	40996095	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:40996095C>G	ENST00000352632.3	+	4	521	c.435C>G	c.(433-435)atC>atG	p.I145M	SPTBN4_ENST00000344104.3_Missense_Mutation_p.I145M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.I145M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.I145M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.I145M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	145	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCATGACATCGTGGATGGGA	0.637																																						uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(433-435)ATC>ATG		spectrin, beta, non-erythrocytic 4 isoform							118.0	95.0	103.0					19																	40996095		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40996095C>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.435C>G	19.37:g.40996095C>G	ENSP00000263373:p.Ile145Met					SPTBN4_uc002onx.2_Missense_Mutation_p.I145M|SPTBN4_uc002onz.2_Missense_Mutation_p.I145M	p.I145M	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		4	521	+			145			CH 1.|Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.435C>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810449	0.50421	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.71103	-0.54;-0.54;-0.54	4.76	-1.14	0.09741	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.64402	U	0.000019	D	0.83691	0.5309	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	T	0.79885	-0.1614	10	0.87932	D	0	.	4.6981	0.12813	0.1503:0.3638:0.0:0.4859	.	145;145	Q9H254;Q71S06	SPTN4_HUMAN;.	M	145	ENSP00000263373:I145M;ENSP00000340345:I145M;ENSP00000340741:I145M	ENSP00000340345:I145M	I	+	3	3	SPTBN4	45687935	0.000000	0.05858	0.998000	0.56505	0.426000	0.31534	-1.875000	0.01634	-0.003000	0.14444	-0.247000	0.11927	ATC		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			26	35	0	0	0	0	26	35				
EXOSC5	56915	broad.mit.edu	37	19	41895711	41895711	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:41895711C>G	ENST00000221233.4	-	4	634	c.484G>C	c.(484-486)Gat>Cat	p.D162H	CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.D124H	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	162					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						AGGGTCCCATCAGAGTCCAGG	0.617																																						uc002oqo.2		NA																	0					0						c.(484-486)GAT>CAT		exosome component Rrp46							101.0	101.0	101.0					19																	41895711		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895711C>G	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.484G>C	19.37:g.41895711C>G	ENSP00000221233:p.Asp162His					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron	p.D162H	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			4	507	-			162					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.484G>C	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385743	0.42308	.	.	ENSG00000077348	ENST00000221233	T	0.52295	0.67	5.03	5.03	0.67393	Exoribonuclease, phosphorolytic domain 2 (2);	0.260319	0.42682	D	0.000676	T	0.65995	0.2745	M	0.76328	2.33	0.58432	D	0.999993	D	0.62365	0.991	P	0.58928	0.848	T	0.70026	-0.4985	10	0.87932	D	0	-7.972	17.6538	0.88172	0.0:1.0:0.0:0.0	.	162	Q9NQT4	EXOS5_HUMAN	H	162	ENSP00000221233:D162H	ENSP00000221233:D162H	D	-	1	0	EXOSC5	46587551	0.996000	0.38824	1.000000	0.80357	0.262000	0.26303	3.548000	0.53670	2.774000	0.95407	0.650000	0.86243	GAT		0.617	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		49	73	0	0	0	0	49	73				
GRIK5	2901	broad.mit.edu	37	19	42558072	42558072	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42558072C>G	ENST00000262895.3	-	9	1065	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	GRIK5_ENST00000301218.4_Missense_Mutation_p.D356H|GRIK5_ENST00000593562.1_Missense_Mutation_p.D356H	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	356					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTCAGCCCATCATACTCTACC	0.617																																						uc002osj.1		NA																	0					0						c.(1066-1068)GAT>CAT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						46.0	40.0	42.0					19																	42558072		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558072C>G		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1066G>C	19.37:g.42558072C>G	ENSP00000262895:p.Asp356His					GRIK5_uc010eib.1_Missense_Mutation_p.D275H	p.D356H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			9	1101	-		Prostate(69;0.059)	356			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1066G>C	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313693	0.81358	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.23552	1.9;1.9	5.31	5.31	0.75309	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.39147	1.195	0.54753	D	0.999984	D	0.53885	0.963	P	0.58331	0.837	T	0.09574	-1.0668	10	0.52906	T	0.07	.	17.7443	0.88415	0.0:1.0:0.0:0.0	.	356	Q16478	GRIK5_HUMAN	H	356	ENSP00000262895:D356H;ENSP00000301218:D356H	ENSP00000262895:D356H	D	-	1	0	GRIK5	47249912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.373000	0.79623	2.477000	0.83638	0.563000	0.77884	GAT		0.617	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			12	17	0	0	0	0	12	17				
TMEM145	284339	broad.mit.edu	37	19	42827884	42827884	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42827884C>T	ENST00000301204.3	+	14	1385	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	MEGF8_ENST00000334370.4_5'Flank|MEGF8_ENST00000251268.6_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	448					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGACGTTTATCAGCGACTCGG	0.682																																						uc002otk.1		NA																	0					0						c.(1342-1344)ATC>ATT		transmembrane protein 145							110.0	91.0	98.0					19																	42827884		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42827884C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1344C>T	19.37:g.42827884C>T						MEGF8_uc002otl.3_5'Flank	p.I448I	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			14	1396	+		Prostate(69;0.00682)	448						Silent	SNP	ENST00000301204.3	37	c.1344C>T	CCDS12603.1																																																																																				0.682	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		26	47	0	0	0	0	26	47				
PVR	5817	broad.mit.edu	37	19	45161157	45161157	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:45161157G>A	ENST00000425690.3	+	5	1269	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PVR_ENST00000403059.4_Missense_Mutation_p.E324K|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.E324K|PVR_ENST00000406449.4_Missense_Mutation_p.E324K	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	324	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCGCCAGGCAGAACTGACCGT	0.572											OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ozm.2		NA																	0					0						c.(970-972)GAA>AAA		poliovirus receptor isoform alpha							60.0	44.0	50.0					19																	45161157		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45161157G>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.970G>A	19.37:g.45161157G>A	ENSP00000402060:p.Glu324Lys		OREG0025540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	PVR_uc010ejs.2_Missense_Mutation_p.E324K|PVR_uc010xxb.1_Missense_Mutation_p.E324K|PVR_uc010xxc.1_Missense_Mutation_p.E324K|PVR_uc002ozn.2_Missense_Mutation_p.E269K	p.E324K	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	5	1269	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	324			Extracellular (Potential).|Ig-like C2-type 2.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.970G>A	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700372	0.68501	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.08	-2.81	0.05805	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.041100	0.07628	N	0.928204	T	0.37598	0.1009	M	0.86028	2.79	0.09310	N	1	D;D;D;D	0.59767	0.986;0.976;0.976;0.96	D;D;D;P	0.67548	0.939;0.934;0.952;0.896	T	0.36016	-0.9765	10	0.46703	T	0.11	.	5.6136	0.17418	0.2747:0.4558:0.2695:0.0	.	324;324;324;324	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	K	324	ENSP00000340870:E324K;ENSP00000402060:E324K;ENSP00000383907:E324K;ENSP00000385344:E324K	ENSP00000340870:E324K	E	+	1	0	PVR	49852997	0.004000	0.15560	0.001000	0.08648	0.038000	0.13279	0.127000	0.15790	-0.010000	0.14271	0.655000	0.94253	GAA		0.572	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		12	25	0	0	0	0	12	25				
HIF3A	64344	broad.mit.edu	37	19	46800352	46800352	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:46800352C>G	ENST00000377670.4	+	1	50	c.19C>G	c.(19-21)Cgc>Ggc	p.R7G	HIF3A_ENST00000472815.1_5'Flank|HIF3A_ENST00000244303.6_5'Flank|HIF3A_ENST00000339613.2_5'Flank	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	7					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGGGCTGCAGCGCGCAAGGTA	0.716																																						uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(19-21)CGC>GGC		hypoxia inducible factor 3, alpha subunit							15.0	21.0	19.0					19																	46800352		2107	4183	6290	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46800352C>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.19C>G	19.37:g.46800352C>G	ENSP00000366898:p.Arg7Gly					HIF3A_uc002pef.1_Missense_Mutation_p.R7G|HIF3A_uc002peg.3_Missense_Mutation_p.R7G|HIF3A_uc010xxx.1_5'Flank|HIF3A_uc002pei.3_5'Flank|HIF3A_uc002pej.1_5'Flank|HIF3A_uc002pek.2_5'Flank|HIF3A_uc010xxy.1_5'Flank	p.R7G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	1	48	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	7					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.19C>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229818	0.39399	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707	T	0.55234	0.53	3.13	3.13	0.36017	.	.	.	.	.	T	0.52158	0.1717	N	0.14661	0.345	0.80722	D	1	D;D;B	0.56968	0.978;0.962;0.0	D;D;B	0.71184	0.972;0.931;0.001	T	0.56980	-0.7889	9	0.87932	D	0	.	9.9989	0.41916	0.0:1.0:0.0:0.0	.	7;7;7	Q9Y2N7;B0M185;E7EWV6	HIF3A_HUMAN;.;.	G	7	ENSP00000366898:R7G	ENSP00000244302:R7G	R	+	1	0	HIF3A	51492192	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.553000	0.36255	2.056000	0.61249	0.306000	0.20318	CGC		0.716	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			17	29	0	0	0	0	17	29				
ZC3H4	23211	broad.mit.edu	37	19	47597670	47597670	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47597670C>T	ENST00000253048.5	-	3	394	c.357G>A	c.(355-357)aaG>aaA	p.K119K	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	119							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCTTCTTCGACCTCC	0.562																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(355-357)AAG>AAA		zinc finger CCCH-type containing 4							306.0	319.0	314.0					19																	47597670		1958	4131	6089	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47597670C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.357G>A	19.37:g.47597670C>T						ZC3H4_uc002pgb.1_RNA	p.K119K	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	3	395	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	119			Potential.		Q9Y420	Silent	SNP	ENST00000253048.5	37	c.357G>A	CCDS42582.1																																																																																				0.562	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			137	280	0	0	0	0	137	280				
SLC8A2	6543	broad.mit.edu	37	19	47960796	47960796	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:47960796C>A	ENST00000236877.6	-	3	1126	c.731G>T	c.(730-732)tGg>tTg	p.W244L	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	244					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTCGGCCATCCAGGCGAATAC	0.692																																						uc002pgx.2		NA																	0				skin(3)|ovary(1)	4						c.(730-732)TGG>TTG		solute carrier family 8 member 2 precursor							27.0	38.0	34.0					19																	47960796		2199	4290	6489	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47960796C>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.731G>T	19.37:g.47960796C>A	ENSP00000236877:p.Trp244Leu					SLC8A2_uc010xyq.1_5'UTR|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.W244L	p.W244L	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	3	1009	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	244			Helical; (Potential).		B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.731G>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902364	0.52227	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.33438	1.41	3.31	3.31	0.37934	.	0.145380	0.49916	D	0.000126	T	0.57740	0.2074	M	0.86178	2.8	0.80722	D	1	D;D	0.71674	0.998;0.976	D;P	0.78314	0.991;0.631	T	0.67185	-0.5734	10	0.87932	D	0	.	13.5119	0.61517	0.0:1.0:0.0:0.0	.	72;244	E9PGS7;Q9UPR5	.;NAC2_HUMAN	L	72;244	ENSP00000236877:W244L	ENSP00000236877:W244L	W	-	2	0	SLC8A2	52652608	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.431000	0.80335	1.680000	0.50976	0.313000	0.20887	TGG		0.692	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			24	35	1	0	5.62e-17	6.16e-17	24	35				
TULP2	7288	broad.mit.edu	37	19	49391429	49391429	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49391429C>A	ENST00000221399.3	-	8	870	c.726G>T	c.(724-726)ctG>ctT	p.L242L		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	242					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CCTCGCCTTTCAGGGCCTTGG	0.592																																						uc002pkz.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(724-726)CTG>CTT		tubby like protein 2							96.0	66.0	76.0					19																	49391429		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49391429C>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.726G>T	19.37:g.49391429C>A							p.L242L	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	8	877	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	242					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.726G>T	CCDS12739.1																																																																																				0.592	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		35	39	1	0	7.53e-24	8.37e-24	35	39				
LIN7B	64130	broad.mit.edu	37	19	49621200	49621200	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49621200G>A	ENST00000221459.2	+	5	571	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	LIN7B_ENST00000391864.3_Missense_Mutation_p.R106Q|PPFIA3_ENST00000334186.4_5'Flank	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	176					exocytosis (GO:0006887)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TACACACCGCGAGTGCTGGAG	0.657																																						uc002pmp.2		NA																	0					0						c.(526-528)CGA>CAA		lin-7 homolog B							132.0	125.0	128.0					19																	49621200		2203	4300	6503	SO:0001583	missense	64130				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding	g.chr19:49621200G>A	AF311862	CCDS12757.1	19q13.3	2008-07-17			ENSG00000104863	ENSG00000104863			17788	protein-coding gene	gene with protein product		612331				10341223	Standard	XR_243950		Approved	MALS-2, LIN-7B, VELI2	uc002pmp.3	Q9HAP6	OTTHUMG00000134288	ENST00000221459.2:c.527G>A	19.37:g.49621200G>A	ENSP00000221459:p.Arg176Gln					PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	p.R176Q	NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)	5	571	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	176						Missense_Mutation	SNP	ENST00000221459.2	37	c.527G>A	CCDS12757.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795870	0.50208	.	.	ENSG00000104863	ENST00000391864;ENST00000221459	T;T	0.51325	0.71;0.71	3.94	2.85	0.33270	PDZ/DHR/GLGF (1);	0.095471	0.41938	D	0.000784	T	0.28433	0.0703	L	0.27053	0.805	0.09310	N	0.999996	B	0.14012	0.009	B	0.14578	0.011	T	0.09596	-1.0667	10	0.33141	T	0.24	-6.6307	3.9757	0.09473	0.2028:0.2139:0.5832:0.0	.	176	Q9HAP6	LIN7B_HUMAN	Q	106;176	ENSP00000375737:R106Q;ENSP00000221459:R176Q	ENSP00000221459:R176Q	R	+	2	0	LIN7B	54313012	1.000000	0.71417	0.011000	0.14972	0.731000	0.41821	5.149000	0.64863	0.943000	0.37553	0.561000	0.74099	CGA		0.657	LIN7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258980.1	NM_022165		34	78	0	0	0	0	34	78				
HRC	3270	broad.mit.edu	37	19	49657828	49657828	+	Missense_Mutation	SNP	C	C	G	rs139799783		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657828C>G	ENST00000252825.4	-	1	853	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	HRC_ENST00000595625.1_Missense_Mutation_p.E223Q	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	223	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCATCCTCTTCACTCCCA	0.547																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(667-669)GAG>CAG		histidine rich calcium binding protein							124.0	87.0	100.0					19																	49657828		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657828C>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.667G>C	19.37:g.49657828C>G	ENSP00000252825:p.Glu223Gln						p.E223Q	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	854	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	223			4 X tandem repeats, acidic.|2-4.|6 X approximate tandem repeats.		Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.667G>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	c	14.80	2.642361	0.47153	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06528	3.29	3.0	0.777	0.18538	.	.	.	.	.	T	0.11153	0.0272	M	0.73962	2.25	0.20821	N	0.999846	P	0.52170	0.951	P	0.49637	0.617	T	0.18587	-1.0332	9	0.46703	T	0.11	-2.4573	2.4432	0.04499	0.2369:0.486:0.0:0.2771	.	223	P23327	SRCH_HUMAN	Q	223;193	ENSP00000252825:E223Q	ENSP00000252825:E223Q	E	-	1	0	HRC	54349640	0.005000	0.15991	0.657000	0.29651	0.051000	0.14879	0.307000	0.19296	0.530000	0.28619	0.457000	0.33378	GAG		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		14	36	0	0	0	0	14	36				
AP2A1	160	broad.mit.edu	37	19	50285913	50285913	+	Silent	SNP	C	C	T	rs547369327		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50285913C>T	ENST00000359032.5	+	4	405	c.405C>T	c.(403-405)atC>atT	p.I135I	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000354293.5_Silent_p.I135I	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	135					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCACTGCATCGCCAACGTGG	0.647																																						uc002ppn.2		NA																	0				ovary(2)	2						c.(403-405)ATC>ATT		adaptor-related protein complex 2, alpha 1							31.0	33.0	32.0					19																	50285913		2155	4255	6410	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50285913C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.405C>T	19.37:g.50285913C>T						AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Silent_p.I135I	p.I135I	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	4	616	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	135					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.405C>T	CCDS46148.1																																																																																				0.647	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			6	20	0	0	0	0	6	20				
VRK3	51231	broad.mit.edu	37	19	50510833	50510833	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50510833G>C	ENST00000599538.1	-	5	1204	c.540C>G	c.(538-540)ctC>ctG	p.L180L	VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000594092.1_Silent_p.L180L|VRK3_ENST00000316763.3_Silent_p.L180L|VRK3_ENST00000377011.2_Silent_p.L130L|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Silent_p.L180L|VRK3_ENST00000601341.1_Silent_p.L130L|VRK3_ENST00000594948.1_Silent_p.L180L|VRK3_ENST00000601912.1_Silent_p.L130L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TACCTTCATAGAGAATGCCCT	0.582																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	uc002prg.2		NA																	0				stomach(1)|skin(1)	2						c.(538-540)CTC>CTG		vaccinia related kinase 3 isoform 1							159.0	124.0	136.0					19																	50510833		2203	4300	6503	SO:0001819	synonymous_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50510833G>C	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.540C>G	19.37:g.50510833G>C						VRK3_uc002prh.1_Silent_p.L180L|VRK3_uc002pri.1_Silent_p.L130L|VRK3_uc010ens.2_Silent_p.L180L|VRK3_uc010ybl.1_Silent_p.L130L|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Silent_p.L130L|VRK3_uc002prk.1_Silent_p.L180L|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Silent_p.L180L|VRK3_uc010ybn.1_Silent_p.L180L	p.L180L	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	5	638	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	180			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	ENST00000599538.1	37	c.540C>G	CCDS12791.1																																																																																				0.582	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		24	74	0	0	0	0	24	74				
ZNF473	25888	broad.mit.edu	37	19	50542425	50542425	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:50542425T>G	ENST00000595661.1	+	4	512	c.17T>G	c.(16-18)gTg>gGg	p.V6G	ZNF473_ENST00000270617.3_Missense_Mutation_p.V6G|ZNF473_ENST00000601364.1_Missense_Mutation_p.V6G|ZNF473_ENST00000391821.2_Missense_Mutation_p.V6G|ZNF473_ENST00000445728.3_5'UTR			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGGAATTTGTGACCCTCAAG	0.577																																						uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(16-18)GTG>GGG		zinc finger protein 473							163.0	143.0	150.0					19																	50542425		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50542425T>G	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.17T>G	19.37:g.50542425T>G	ENSP00000472808:p.Val6Gly					ZNF473_uc002prm.2_Missense_Mutation_p.V6G|ZNF473_uc010ybo.1_5'UTR	p.V6G	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	3	254	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	6			KRAB.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.17T>G	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026149	0.54683	.	.	ENSG00000142528	ENST00000270617;ENST00000391821	T;T	0.06218	3.33;3.33	5.11	-7.21	0.01490	Krueppel-associated box (4);	1.795830	0.03316	N	0.191109	T	0.13670	0.0331	H	0.95504	3.68	0.09310	N	0.999996	B	0.12013	0.005	B	0.12156	0.007	T	0.45920	-0.9228	10	0.87932	D	0	0.645	2.6942	0.05129	0.1976:0.4028:0.1069:0.2927	.	6	Q8WTR7	ZN473_HUMAN	G	6	ENSP00000270617:V6G;ENSP00000375697:V6G	ENSP00000270617:V6G	V	+	2	0	ZNF473	55234237	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.824000	0.04438	-1.786000	0.01269	0.528000	0.53228	GTG		0.577	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		45	97	0	0	0	0	45	97				
ZNF432	9668	broad.mit.edu	37	19	52537236	52537236	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:52537236C>G	ENST00000594154.1	-	5	1908	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	ZNF432_ENST00000221315.5_Missense_Mutation_p.E566Q			O94892	ZN432_HUMAN	zinc finger protein 432	566					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAAGATTTCTCTTCTGTATGA	0.398																																						uc002pyk.2		NA																	0				breast(2)|pancreas(1)	3						c.(1696-1698)GAG>CAG		zinc finger protein 432							101.0	96.0	98.0					19																	52537236		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537236C>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1696G>C	19.37:g.52537236C>G	ENSP00000470488:p.Glu566Gln						p.E566Q	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	2014	-		all_neural(266;0.117)	566						Missense_Mutation	SNP	ENST00000594154.1	37	c.1696G>C	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868849	0.32977	.	.	ENSG00000256087	ENST00000221315	T	0.20332	2.08	2.96	1.9	0.25705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	M	0.73753	2.245	0.23050	N	0.998372	D	0.61080	0.989	D	0.68765	0.96	T	0.12889	-1.0530	9	0.72032	D	0.01	.	9.0694	0.36482	0.0:0.8834:0.0:0.1166	.	566	O94892	ZN432_HUMAN	Q	566	ENSP00000221315:E566Q	ENSP00000221315:E566Q	E	-	1	0	ZNF432	57229048	0.191000	0.23288	0.073000	0.20177	0.537000	0.34900	0.975000	0.29449	0.581000	0.29539	-0.140000	0.14226	GAG		0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		39	87	0	0	0	0	39	87				
KIR3DL3	115653	broad.mit.edu	37	19	55247444	55247444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:55247444G>A	ENST00000291860.1	+	8	1132	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000342376.3_5'Flank|KIR2DL3_ENST00000434419.2_5'Flank	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	372						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.542																																						uc002qgu.1		NA																	0				ovary(2)	2						c.(1114-1116)GAT>AAT		killer cell immunoglobulin-like receptor, three							35.0	42.0	40.0					19																	55247444		1817	3817	5634	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247444G>A	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1114G>A	19.37:g.55247444G>A	ENSP00000291860:p.Asp372Asn					KIR2DL3_uc002qgv.2_Intron|KIR2DL3_uc002qgx.2_5'Flank|KIR2DL3_uc002qgy.2_5'Flank|KIR2DL3_uc010erw.1_5'Flank	p.D372N	NM_153443	NP_703144	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1132	+			372			Cytoplasmic (Potential).		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.1114G>A	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	g	12.05	1.823034	0.32237	.	.	ENSG00000242019	ENST00000291860	T	0.00481	7.11	1.08	-1.9	0.07665	.	2.529380	0.02968	U	0.143975	T	0.01092	0.0036	M	0.90369	3.11	0.09310	N	1	P	0.47253	0.892	P	0.50860	0.652	T	0.39941	-0.9589	10	0.87932	D	0	.	4.2224	0.10565	0.461:0.0:0.539:0.0	.	372	Q8N743	KI3L3_HUMAN	N	372	ENSP00000291860:D372N	ENSP00000291860:D372N	D	+	1	0	KIR3DL3	59939256	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.018000	0.13422	-0.491000	0.06697	0.184000	0.17185	GAT		0.542	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		64	155	0	0	0	0	64	155				
SBK2	646643	broad.mit.edu	37	19	56041144	56041144	+	Missense_Mutation	SNP	C	C	T	rs553624707		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:56041144C>T	ENST00000413299.1	-	4	1040	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	SBK2_ENST00000344158.3_Missense_Mutation_p.E335K	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	335							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCTCCGCCTCGCCCTCCCGC	0.731													C|||	1	0.000199681	0.0	0.0	5008	,	,		12424	0.001		0.0	False		,,,				2504	0.0					uc010ygc.1		NA																	0					0						c.(1003-1005)GAG>AAG		SH3-binding domain kinase family, member 2							14.0	20.0	18.0					19																	56041144		2045	4126	6171	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041144C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.1003G>A	19.37:g.56041144C>T	ENSP00000389015:p.Glu335Lys						p.E335K	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			3	1003	-			335						Missense_Mutation	SNP	ENST00000413299.1	37	c.1003G>A	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528597	0.27299	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.70282	-0.47;-0.47	3.85	1.64	0.23874	.	1.014140	0.07965	U	0.983088	T	0.54013	0.1832	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38866	-0.9641	10	0.31617	T	0.26	-8.5369	8.1201	0.30965	0.0:0.792:0.0:0.208	.	335	P0C263	SBK2_HUMAN	K	335	ENSP00000389015:E335K;ENSP00000345044:E335K	ENSP00000345044:E335K	E	-	1	0	SBK2	60732956	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.312000	0.08113	0.405000	0.25532	0.467000	0.42956	GAG		0.731	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		17	23	0	0	0	0	17	23				
ZNF547	284306	broad.mit.edu	37	19	57888534	57888534	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:57888534G>C	ENST00000282282.3	+	4	340	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	64	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)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCACCTTTAGAGCCAGGTGT	0.507																																						uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(190-192)GAG>CAG		zinc finger protein 547							104.0	81.0	88.0					19																	57888534		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57888534G>C	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.190G>C	19.37:g.57888534G>C	ENSP00000282282:p.Glu64Gln					ZNF547_uc002qpm.3_5'UTR|ZNF547_uc010ygx.1_Missense_Mutation_p.E64Q	p.E64Q	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	383	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	64			KRAB.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.190G>C	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	5.035	0.192230	0.09599	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.01113	5.32	2.62	-1.95	0.07548	Krueppel-associated box (3);	.	.	.	.	T	0.01189	0.0039	L	0.48260	1.515	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.20767	0.031;0.0	T	0.45308	-0.9270	9	0.38643	T	0.18	.	3.0653	0.06212	0.432:0.2304:0.3375:0.0	.	64;64	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	Q	64	ENSP00000282282:E64Q	ENSP00000282282:E64Q	E	+	1	0	ZNF547	62580346	0.017000	0.18338	0.000000	0.03702	0.023000	0.10783	0.359000	0.20233	-0.262000	0.09392	-0.440000	0.05779	GAG		0.507	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		22	38	0	0	0	0	22	38				
ZNF211	10520	broad.mit.edu	37	19	58153116	58153116	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:58153116G>C	ENST00000347302.3	+	3	1441	c.1262G>C	c.(1261-1263)gGa>gCa	p.G421A	ZNF211_ENST00000254182.7_Missense_Mutation_p.G412A|ZNF211_ENST00000541801.1_Missense_Mutation_p.G412A|ZNF211_ENST00000420680.1_Missense_Mutation_p.G425A|ZNF211_ENST00000544273.1_Missense_Mutation_p.G433A|ZNF211_ENST00000299871.5_Missense_Mutation_p.G486A|ZNF211_ENST00000391703.3_Missense_Mutation_p.G360A|ZNF211_ENST00000240731.4_Missense_Mutation_p.G434A	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	421					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCACACTGGAGAAAGACCC	0.478																																						uc002qpq.2		NA																	0				ovary(2)	2						c.(1261-1263)GGA>GCA		zinc finger protein 211 isoform 2							73.0	76.0	75.0					19																	58153116		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153116G>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1262G>C	19.37:g.58153116G>C	ENSP00000339562:p.Gly421Ala					ZNF211_uc010yhb.1_Missense_Mutation_p.G425A|ZNF211_uc002qpp.2_Missense_Mutation_p.G434A|ZNF211_uc002qpr.2_Missense_Mutation_p.G485A|ZNF211_uc002qps.2_Missense_Mutation_p.G486A|ZNF211_uc002qpt.2_Missense_Mutation_p.G433A|ZNF211_uc010yhc.1_Missense_Mutation_p.G433A|ZNF211_uc010yhd.1_Missense_Mutation_p.G360A|ZNF211_uc010yhe.1_Missense_Mutation_p.G412A	p.G421A	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1442	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	421					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1262G>C	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.9|20.9	4.063508|4.063508	0.76187|0.76187	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.01505|.	4.82;4.82;4.82;4.82;4.82;4.82;4.82;4.82|.	3.15|3.15	3.15|3.15	0.36227|0.36227	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.70011|0.70011	0.3175|0.3175	M|M	0.65677|0.65677	2.01|2.01	0.39833|0.39833	D|D	0.972997|0.972997	D;D;D;B;D;D|.	0.89917|.	0.999;0.999;0.999;0.19;1.0;1.0|.	D;D;D;B;D;D|.	0.91635|.	0.997;0.997;0.996;0.071;0.999;0.999|.	T|T	0.72469|0.72469	-0.4284|-0.4284	9|5	0.72032|.	D|.	0.01|.	.|.	13.5065|13.5065	0.61486|0.61486	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	425;433;486;412;421;434|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	A|C	425;421;412;360;412;486;433;434|424	ENSP00000399193:G425A;ENSP00000339562:G421A;ENSP00000254182:G412A;ENSP00000375584:G360A;ENSP00000442601:G412A;ENSP00000299871:G486A;ENSP00000441386:G433A;ENSP00000240731:G434A|.	ENSP00000240731:G434A|.	G|W	+|+	2|3	0|0	ZNF211|ZNF211	62844928|62844928	0.985000|0.985000	0.35326|0.35326	0.993000|0.993000	0.49108|0.49108	0.971000|0.971000	0.66376|0.66376	2.297000|2.297000	0.43593|0.43593	1.757000|1.757000	0.51966|0.51966	0.585000|0.585000	0.79938|0.79938	GGA|TGG		0.478	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			26	57	0	0	0	0	26	57				
GEN1	348654	broad.mit.edu	37	2	17946179	17946179	+	Missense_Mutation	SNP	G	G	C	rs201084834		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:17946179G>C	ENST00000381254.2	+	4	578	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E122Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	122	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATATGCTCGAATGCTTAGG	0.428								Homologous recombination																														uc002rct.2		NA																	0				breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(364-366)GAA>CAA	Homologous_recombination	Gen homolog 1, endonuclease							156.0	133.0	141.0					2																	17946179		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17946179G>C	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.364G>C	2.37:g.17946179G>C	ENSP00000370653:p.Glu122Gln					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E122Q|GEN1_uc002rcu.2_Missense_Mutation_p.E122Q	p.E122Q	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			4	437	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		122			I-domain.		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.364G>C	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463276	0.63513	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465	T;T;T	0.48836	0.8;0.8;0.8	5.49	5.49	0.81192	XPG/RAD2 endonuclease (1);	0.072563	0.52532	D	0.000073	T	0.60117	0.2244	M	0.78456	2.415	0.46376	D	0.999018	P	0.41345	0.746	P	0.45610	0.487	T	0.62115	-0.6922	10	0.45353	T	0.12	-12.3257	19.3872	0.94563	0.0:0.0:1.0:0.0	.	122	Q17RS7	GEN_HUMAN	Q	122	ENSP00000318977:E122Q;ENSP00000370653:E122Q;ENSP00000435143:E122Q	ENSP00000318977:E122Q	E	+	1	0	GEN1	17809660	1.000000	0.71417	0.453000	0.27007	0.966000	0.64601	5.034000	0.64152	2.586000	0.87340	0.544000	0.68410	GAA		0.428	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		68	27	0	0	0	0	68	27				
ITSN2	50618	broad.mit.edu	37	2	24522802	24522802	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522802C>G	ENST00000355123.4	-	12	1763	c.1320G>C	c.(1318-1320)agG>agC	p.R440S	ITSN2_ENST00000361999.3_Missense_Mutation_p.R440S|ITSN2_ENST00000406921.3_Missense_Mutation_p.R440S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	440					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTTTCTCCTTTCTTCCT	0.299																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1318-1320)AGG>AGC		intersectin 2 isoform 1							148.0	135.0	140.0					2																	24522802		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522802C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1320G>C	2.37:g.24522802C>G	ENSP00000347244:p.Arg440Ser					ITSN2_uc002rff.2_Missense_Mutation_p.R440S|ITSN2_uc002rfg.2_Missense_Mutation_p.R440S|ITSN2_uc010eyd.2_Missense_Mutation_p.R465S	p.R440S	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1578	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		440			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1320G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498534	0.44455	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.80214	0.07;0.1;0.07;0.55;-1.35	5.76	3.03	0.35002	.	0.000000	0.41396	U	0.000888	T	0.81158	0.4764	M	0.74647	2.275	0.39069	D	0.96067	P;P;P;P	0.52316	0.952;0.952;0.763;0.651	P;P;B;B	0.46659	0.523;0.523;0.311;0.165	T	0.81980	-0.0684	10	0.87932	D	0	.	10.1111	0.42563	0.0:0.7282:0.0:0.2718	.	440;440;440;440	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	S	440;440;440;464;440;465	ENSP00000354561:R440S;ENSP00000347244:R440S;ENSP00000370250:R440S;ENSP00000384499:R440S;ENSP00000391224:R465S	ENSP00000347244:R440S	R	-	3	2	ITSN2	24376306	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	0.584000	0.23864	0.480000	0.27534	-0.229000	0.12294	AGG		0.299	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		50	18	0	0	0	0	50	18				
ITSN2	50618	broad.mit.edu	37	2	24522843	24522843	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:24522843C>G	ENST00000355123.4	-	12	1722	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E427Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E427Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	427					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCTTCTCTAAGCGTTTT	0.358																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1279-1281)GAG>CAG		intersectin 2 isoform 1							188.0	173.0	178.0					2																	24522843		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522843C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1279G>C	2.37:g.24522843C>G	ENSP00000347244:p.Glu427Gln					ITSN2_uc002rff.2_Missense_Mutation_p.E427Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E427Q|ITSN2_uc010eyd.2_Missense_Mutation_p.E452Q	p.E427Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1537	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		427			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1279G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730726	0.69074	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;D	0.81996	0.14;0.16;0.14;0.57;-1.56	5.76	5.76	0.90799	.	0.000000	0.37483	U	0.002078	D	0.87779	0.6263	L	0.37630	1.12	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.994	D	0.85460	0.1166	10	0.35671	T	0.21	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	427;427;427;427	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	Q	427;427;427;451;427;452	ENSP00000354561:E427Q;ENSP00000347244:E427Q;ENSP00000370250:E427Q;ENSP00000384499:E427Q;ENSP00000391224:E452Q	ENSP00000347244:E427Q	E	-	1	0	ITSN2	24376347	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.445000	0.80570	2.894000	0.99253	0.591000	0.81541	GAG		0.358	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		70	25	0	0	0	0	70	25				
IFT172	26160	broad.mit.edu	37	2	27712512	27712512	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:27712512C>T	ENST00000260570.3	-	1	112	c.9G>A	c.(7-9)ttG>ttA	p.L3L	IFT172_ENST00000416524.2_5'UTR|IFT172_ENST00000359466.6_Silent_p.L3L	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	3					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCAGGTGCTTCAAGTGCATGA	0.562																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(7-9)TTG>TTA		selective LIM binding factor homolog							90.0	72.0	78.0					2																	27712512		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27712512C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.9G>A	2.37:g.27712512C>T						IFT172_uc002rkw.2_Silent_p.L3L|IFT172_uc010yls.1_5'UTR|IFT172_uc010ezc.2_Silent_p.L3L|IFT172_uc002rkv.2_Silent_p.L3L|IFT172_uc010ylt.1_Silent_p.L3L	p.L3L	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			1	60	-	Acute lymphoblastic leukemia(172;0.155)		3					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.9G>A	CCDS1755.1																																																																																				0.562	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		26	12	0	0	0	0	26	12				
LTBP1	4052	broad.mit.edu	37	2	33488459	33488459	+	Splice_Site	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:33488459G>T	ENST00000404816.2	+	15	2970	c.2617G>T	c.(2617-2619)Gaa>Taa	p.E873*	LTBP1_ENST00000390003.4_Splice_Site_p.E548*|LTBP1_ENST00000418533.2_Splice_Site_p.E547*|LTBP1_ENST00000407925.1_Splice_Site_p.E547*|LTBP1_ENST00000354476.3_Splice_Site_p.E874*|LTBP1_ENST00000404525.1_Splice_Site_p.E494*|LTBP1_ENST00000402934.1_Splice_Site_p.E494*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	873	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)				TCAAGTGACAGGTTGGTGCAG	0.428																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(2620-2622)GAA>TAA		latent transforming growth factor beta binding							119.0	112.0	114.0					2																	33488459		2203	4300	6503	SO:0001630	splice_region_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.chr2:33488459G>T		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.2617+1G>T	2.37:g.33488459G>T						LTBP1_uc002rot.2_Nonsense_Mutation_p.E548*|LTBP1_uc002rou.2_Nonsense_Mutation_p.E547*|LTBP1_uc002rov.2_Nonsense_Mutation_p.E494*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.E547*|LTBP1_uc010yna.1_Nonsense_Mutation_p.E494*	p.E874*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			15	2620	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	873			EGF-like 4; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.2620G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	38	7.282773	0.98186	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	.	.	.	X	873;874;548;547;494;494;547;201;191	.	ENSP00000346467:E874X	E	+	1	0	LTBP1	33341963	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.778000	0.75043	2.528000	0.85240	0.561000	0.74099	GAA		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Nonsense_Mutation	32	71	1	0	1.63e-12	1.76e-12	32	71				
SOS1	6654	broad.mit.edu	37	2	39262376	39262376	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:39262376G>C	ENST00000426016.1	-	9	1137	c.1051C>G	c.(1051-1053)Ctc>Gtc	p.L351V	SOS1_ENST00000395038.2_Missense_Mutation_p.L351V|SOS1_ENST00000428721.2_Missense_Mutation_p.L294V|SOS1_ENST00000402219.2_Missense_Mutation_p.L351V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	351	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAGTAATGGAGACAGTGGTAA	0.313									Noonan syndrome																													uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1051-1053)CTC>GTC		son of sevenless homolog 1							48.0	52.0	51.0					2																	39262376		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39262376G>C	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1051C>G	2.37:g.39262376G>C	ENSP00000387784:p.Leu351Val					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.L83V	p.L351V	NM_005633	NP_005624	Q07889	SOS1_HUMAN			8	1092	-		all_hematologic(82;0.21)	351			DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1051C>G	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132154	0.56828	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	6.16	6.16	0.99307	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	L	0.53249	1.67	0.80722	D	1	B;B	0.28552	0.215;0.132	B;B	0.28638	0.055;0.092	T	0.59910	-0.7365	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	83;351	F5GX06;Q07889	.;SOS1_HUMAN	V	351;351;83;351;351;294	ENSP00000387784:L351V;ENSP00000384675:L351V;ENSP00000378479:L351V;ENSP00000399992:L294V	ENSP00000263879:L351V	L	-	1	0	SOS1	39115880	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.358000	0.59442	2.937000	0.99478	0.650000	0.86243	CTC		0.313	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		3	13	0	0	0	0	3	13				
EPCAM	4072	broad.mit.edu	37	2	47596657	47596657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:47596657C>T	ENST00000263735.4	+	1	371	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	EPCAM_ENST00000405271.1_Intron	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	5					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GGCGCCCCCGCAGGTCCTCGC	0.741																																						uc002rvx.2		NA																	3	Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)	skin(1)	1						c.(13-15)CAG>TAG		epithelial cell adhesion molecule precursor							5.0	7.0	6.0					2																	47596657		2047	4137	6184	SO:0001587	stop_gained	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47596657C>T	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.13C>T	2.37:g.47596657C>T	ENSP00000263735:p.Gln5*					EPCAM_uc002rvw.2_Intron	p.Q5*	NM_002354	NP_002345	P16422	EPCAM_HUMAN			1	371	+			5					P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Nonsense_Mutation	SNP	ENST00000263735.4	37	c.13C>T	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.360168	0.61403	.	.	ENSG00000119888	ENST00000263735;ENST00000419334	.	.	.	3.78	2.89	0.33648	.	1.270230	0.05349	N	0.531470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6315	0.33922	0.2267:0.7733:0.0:0.0	.	.	.	.	X	5	.	ENSP00000263735:Q5X	Q	+	1	0	EPCAM	47450161	0.022000	0.18835	0.140000	0.22221	0.077000	0.17291	1.689000	0.37700	0.761000	0.33130	0.531000	0.56144	CAG		0.741	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			8	5	0	0	0	0	8	5				
PPP1R21	129285	broad.mit.edu	37	2	48707126	48707126	+	Missense_Mutation	SNP	C	C	T	rs376485954		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:48707126C>T	ENST00000294952.8	+	13	1446	c.1289C>T	c.(1288-1290)gCt>gTt	p.A430V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.A430V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.A430V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	430						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GTTGGTGCTGCTCTGCATGGA	0.403																																						uc002rwm.2		NA																	0				ovary(1)	1						c.(1288-1290)GCT>GTT		KLRAQ motif containing 1 isoform 1		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	181.0	165.0	171.0		1289,1289,1289	4.4	1.0	2		171	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KLRAQ1	NM_001135629.2,NM_001193475.1,NM_152994.4	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	430/781,430/739,430/770	48707126	1,13005	2203	4300	6503	SO:0001583	missense	129285							g.chr2:48707126C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1289C>T	2.37:g.48707126C>T	ENSP00000294952:p.Ala430Val					KLRAQ1_uc002rwj.2_Missense_Mutation_p.A430V|KLRAQ1_uc002rwl.2_Missense_Mutation_p.A384V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.A430V|KLRAQ1_uc010yok.1_Missense_Mutation_p.A430V	p.A430V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			13	1474	+			430					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1289C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620083	0.46736	0.0	1.16E-4	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.51	4.44	0.53790	.	0.404642	0.30201	N	0.010171	T	0.41903	0.1179	L	0.40543	1.245	0.33819	D	0.628879	B;B;B;B	0.16166	0.016;0.016;0.013;0.002	B;B;B;B	0.14578	0.008;0.011;0.004;0.004	T	0.49184	-0.8966	9	0.27785	T	0.31	-12.5904	11.8006	0.52124	0.0:0.781:0.1378:0.0811	.	430;430;430;430	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	V	430	.	ENSP00000281394:A430V	A	+	2	0	KLRAQ1	48560630	0.650000	0.27331	1.000000	0.80357	0.983000	0.72400	2.412000	0.44609	2.580000	0.87095	0.655000	0.94253	GCT		0.403	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		59	28	0	0	0	0	59	28				
RTN4	57142	broad.mit.edu	37	2	55253905	55253905	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:55253905C>G	ENST00000337526.6	-	3	1573	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	RTN4_ENST00000394611.2_Missense_Mutation_p.D238H|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.D238H|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.D238H|RTN4_ENST00000404909.1_Missense_Mutation_p.D238H|RTN4_ENST00000354474.6_Missense_Mutation_p.D212H|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	444					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAAGAAGTATCATCATTACTA	0.398																																						uc002rye.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1330-1332)GAT>CAT		reticulon 4 isoform A							229.0	220.0	223.0					2																	55253905		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253905C>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1330G>C	2.37:g.55253905C>G	ENSP00000337838:p.Asp444His					RTN4_uc002ryd.2_Missense_Mutation_p.D238H|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.D444H	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	1628	-			444			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.1330G>C	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790795	0.50102	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.30182	1.54;1.54;2.29;1.54;1.54;1.6	6.06	4.25	0.50352	.	0.086300	0.49305	D	0.000146	T	0.48502	0.1503	M	0.70275	2.135	0.36702	D	0.880151	D	0.65815	0.995	P	0.57371	0.819	T	0.60929	-0.7165	10	0.87932	D	0	-4.9763	13.0747	0.59081	0.0:0.8692:0.0:0.1308	.	444	Q9NQC3	RTN4_HUMAN	H	238;238;444;238;238;212	ENSP00000384471:D238H;ENSP00000349944:D238H;ENSP00000337838:D444H;ENSP00000378109:D238H;ENSP00000385650:D238H;ENSP00000346465:D212H	ENSP00000337838:D444H	D	-	1	0	RTN4	55107409	0.976000	0.34144	0.248000	0.24265	0.995000	0.86356	2.118000	0.41949	0.876000	0.35872	0.650000	0.86243	GAT		0.398	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			5	240	0	0	0	0	5	240				
AAK1	22848	broad.mit.edu	37	2	69732794	69732794	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:69732794C>T	ENST00000409085.4	-	16	2552	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	AAK1_ENST00000406297.3_Missense_Mutation_p.E726K|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	726					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCAAGCTTCTCGGGATGTTTG	0.488																																						uc002sfp.2		NA																	2	Substitution - Missense(2)		large_intestine(2)		0						c.(2176-2178)GAG>AAG		AP2 associated kinase 1							62.0	63.0	63.0					2																	69732794		1906	4113	6019	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69732794C>T	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2176G>A	2.37:g.69732794C>T	ENSP00000386456:p.Glu726Lys					AAK1_uc010fdk.2_Missense_Mutation_p.E726K|AAK1_uc010yqm.1_Missense_Mutation_p.E727K	p.E726K	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			16	2681	-			726					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.2176G>A	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029298	0.75504	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.32753	1.44;1.44	5.67	5.67	0.87782	.	0.165937	0.51477	D	0.000088	T	0.37812	0.1017	L	0.34521	1.04	0.54753	D	0.999984	P;P;D	0.69078	0.649;0.761;0.997	B;B;P	0.54026	0.06;0.128;0.74	T	0.02064	-1.1220	10	0.29301	T	0.29	-23.7129	18.3583	0.90365	0.0:1.0:0.0:0.0	.	726;726;726	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	K	726	ENSP00000386456:E726K;ENSP00000385181:E726K	ENSP00000385181:E726K	E	-	1	0	AAK1	69586298	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.225000	0.65294	2.675000	0.91044	0.655000	0.94253	GAG		0.488	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		13	5	0	0	0	0	13	5				
EXOC6B	23233	broad.mit.edu	37	2	72562091	72562091	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:72562091G>A	ENST00000272427.6	-	20	2311	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	727					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCAAGTCGATGAAGGCCAACT	0.458																																						uc010fep.2		NA																	0				central_nervous_system(2)	2						c.(2179-2181)TTC>TTT		SEC15-like 2							92.0	94.0	94.0					2																	72562091		1905	4123	6028	SO:0001819	synonymous_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72562091G>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2181C>T	2.37:g.72562091G>A							p.F727F	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			20	2319	-			727					B8ZZY3	Silent	SNP	ENST00000272427.6	37	c.2181C>T	CCDS46333.1																																																																																				0.458	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		48	33	0	0	0	0	48	33				
Unknown	0	broad.mit.edu	37	2	73928298	73928298	+	IGR	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:73928298G>C								ALMS1P (15595 upstream) : TPRKB (28658 downstream)																							CCCCAAGTAAGAGTATGAGGG	0.632																																						uc002sjk.1		NA																	0					0						c.(133-135)CTC>CTG		N-acetyltransferase 8B							64.0	73.0	70.0					2																	73928298		2201	4300	6501	SO:0001628	intergenic_variant	51471				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity	g.chr2:73928298G>C																													2.37:g.73928298G>C							p.L45L	NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN			2	170	-			45			Helical; (Potential).			Silent	SNP		37	c.135C>G																																																																																				0	0.632									39	15	0	0	0	0	39	15				
POLR1A	25885	broad.mit.edu	37	2	86276328	86276328	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:86276328G>C	ENST00000263857.6	-	17	2808	c.2430C>G	c.(2428-2430)gtC>gtG	p.V810V	POLR1A_ENST00000409681.1_Silent_p.V810V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	810					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTTGCCTCTTGACATCTGCCT	0.542																																						uc002sqs.2		NA																	0				ovary(2)|skin(1)	3						c.(2428-2430)GTC>GTG		DNA-directed RNA polymerase I A							141.0	145.0	144.0					2																	86276328		1994	4162	6156	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86276328G>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2430C>G	2.37:g.86276328G>C						POLR1A_uc010ytb.1_Silent_p.V176V	p.V810V	NM_015425	NP_056240	O95602	RPA1_HUMAN			17	2809	-			810					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2430C>G	CCDS42706.1																																																																																				0.542	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		46	30	0	0	0	0	46	30				
KANSL3	55683	broad.mit.edu	37	2	97278577	97278577	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97278577G>C	ENST00000431828.1	-	7	966	c.890C>G	c.(889-891)tCt>tGt	p.S297C	KANSL3_ENST00000441706.2_Missense_Mutation_p.S210C|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.S91C|KANSL3_ENST00000599854.1_Missense_Mutation_p.S210C			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	297					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGACAGCTGAGATTGCCAGAA	0.552																																						uc002swn.3		NA																	0					0						c.(889-891)TCT>TGT		hypothetical protein LOC55683 isoform a							27.0	32.0	30.0					2																	97278577		2041	4180	6221	SO:0001583	missense	55683							g.chr2:97278577G>C	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.890C>G	2.37:g.97278577G>C	ENSP00000396749:p.Ser297Cys					KIAA1310_uc002swh.3_Missense_Mutation_p.S185C|KIAA1310_uc002swi.3_Missense_Mutation_p.S198C|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.S210C|KIAA1310_uc010fhz.2_Missense_Mutation_p.S91C|KIAA1310_uc002swl.3_Missense_Mutation_p.S198C|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.S91C|KIAA1310_uc002swp.1_Missense_Mutation_p.S198C|KIAA1310_uc002swq.1_Missense_Mutation_p.S69C|KIAA1310_uc010fhy.1_Missense_Mutation_p.S198C	p.S297C	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN			7	1036	-			297					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.890C>G	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299165	0.95574	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268;ENST00000448075	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.997;0.994;0.997	T	0.67317	-0.5701	10	0.66056	D	0.02	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	91;297;210;185	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	C	210;185;297;210;91;91;210;91	ENSP00000396749:S297C;ENSP00000400678:S210C;ENSP00000406207:S91C;ENSP00000405988:S91C	ENSP00000346144:S210C	S	-	2	0	KIAA1310	96642304	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.266000	0.95659	2.885000	0.99019	0.655000	0.94253	TCT		0.552	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		3	1	0	0	0	0	3	1				
LMAN2L	81562	broad.mit.edu	37	2	97400156	97400156	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:97400156C>G	ENST00000264963.4	-	3	436	c.414G>C	c.(412-414)cgG>cgC	p.R138R	LMAN2L_ENST00000426463.2_Missense_Mutation_p.G21A|LMAN2L_ENST00000377079.4_Silent_p.R138R|LMAN2L_ENST00000534882.1_Missense_Mutation_p.G21A|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	138	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTGGCTGCATCCGATCCTTTG	0.498																																						uc002swu.2		NA																	0					0						c.(412-414)CGG>CGC		lectin, mannose-binding 2-like isoform 2							217.0	200.0	205.0					2																	97400156		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97400156C>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.414G>C	2.37:g.97400156C>G						LMAN2L_uc002swv.2_Silent_p.R138R|LMAN2L_uc010yut.1_Missense_Mutation_p.G21A|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.G21A|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.G21A	p.R138R	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN			3	450	-			138			L-type lectin-like.|Lumenal (Potential).		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.414G>C	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785059	0.31593	.	.	ENSG00000114988	ENST00000426463;ENST00000534882	T;T	0.80393	-1.21;-1.37	6.06	0.739	0.18324	.	.	.	.	.	T	0.52092	0.1713	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46555	-0.9183	8	0.02654	T	1	.	2.6802	0.05091	0.1188:0.4948:0.1163:0.27	.	21;21	B4DVH1;B4DSH3	.;.	A	21	ENSP00000396391:G21A;ENSP00000438501:G21A	ENSP00000396391:G21A	G	-	2	0	LMAN2L	96763883	0.988000	0.35896	0.995000	0.50966	0.986000	0.74619	0.112000	0.15479	-0.145000	0.11294	-0.903000	0.02851	GGA		0.498	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		53	49	0	0	0	0	53	49				
NEB	4703	broad.mit.edu	37	2	152507244	152507244	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:152507244G>A	ENST00000172853.10	-	53	7218	c.7071C>T	c.(7069-7071)ttC>ttT	p.F2357F	NEB_ENST00000409198.1_Silent_p.F2357F|NEB_ENST00000603639.1_Silent_p.F2357F|NEB_ENST00000604864.1_Silent_p.F2357F|NEB_ENST00000397345.3_Silent_p.F2357F|NEB_ENST00000427231.2_Silent_p.F2357F			P20929	NEBU_HUMAN	nebulin	2357					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGGCTGGAGAACTTAGTTT	0.458																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7069-7071)TTC>TTT		nebulin isoform 3							286.0	288.0	287.0					2																	152507244		2015	4172	6187	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152507244G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7071C>T	2.37:g.152507244G>A							p.F2357F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	53	7262	-			2357			Nebulin 63.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.7071C>T																																																																																					0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		135	108	0	0	0	0	135	108				
ARL6IP6	151188	broad.mit.edu	37	2	153573906	153573906	+	5'Flank	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:153573906C>T	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Missense_Mutation_p.M16I|PRPF40A_ENST00000486100.1_5'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TCCCCGGCCTCATCGTCGGGC	0.642																																						uc002tyi.2		NA																	0					0						c.(1-3)ATG>ATA		formin binding protein 3							37.0	45.0	42.0					2																	153573906		1971	4158	6129	SO:0001631	upstream_gene_variant	55660				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	g.chr2:153573906C>T	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		2.37:g.153573906C>T	Exception_encountered					ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Missense_Mutation_p.M16I|PRPF40A_uc010zcd.1_Missense_Mutation_p.M16I|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Missense_Mutation_p.M1I	p.M1I	NM_017892	NP_060362	O75400	PR40A_HUMAN			1	16	-			1					B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.3G>A	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588571	0.66105	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000359961;ENST00000545856;ENST00000448428	T	0.30714	1.52	5.63	5.63	0.86233	.	0.239917	0.36409	N	0.002605	T	0.43743	0.1261	.	.	.	0.30412	N	0.77901	P;P	0.39044	0.656;0.525	P;B	0.48627	0.584;0.38	T	0.50320	-0.8842	9	0.87932	D	0	0.5576	15.2097	0.73209	0.0:1.0:0.0:0.0	.	1;16	O75400-3;E9PFS0	.;.	I	16;1;16;1;22	ENSP00000386458:M16I	ENSP00000348770:M1I	M	-	3	0	PRPF40A	153282152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.179000	0.58290	2.652000	0.90054	0.655000	0.94253	ATG		0.642	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		14	11	0	0	0	0	14	11				
KCNH7	90134	broad.mit.edu	37	2	163250937	163250937	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:163250937C>T	ENST00000332142.5	-	12	2771	c.2672G>A	c.(2671-2673)aGa>aAa	p.R891K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	891					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTCCTTCTTCTTAGTTTACA	0.333																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(2671-2673)AGA>AAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						170.0	157.0	161.0					2																	163250937		2203	4298	6501	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163250937C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2672G>A	2.37:g.163250937C>T	ENSP00000331727:p.Arg891Lys						p.R891K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			12	2884	-			891			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2672G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398482	0.42512	.	.	ENSG00000184611	ENST00000332142	D	0.98567	-5.0	5.84	4.96	0.65561	.	0.367187	0.28718	N	0.014361	D	0.94324	0.8176	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	D	0.91431	0.5166	10	0.07813	T	0.8	.	14.8074	0.69968	0.0:0.9311:0.0:0.0689	.	891	Q9NS40	KCNH7_HUMAN	K	891	ENSP00000331727:R891K	ENSP00000331727:R891K	R	-	2	0	KCNH7	162959183	0.883000	0.30277	0.959000	0.39883	0.468000	0.32798	2.672000	0.46850	1.477000	0.48234	0.655000	0.94253	AGA		0.333	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		30	19	0	0	0	0	30	19				
PLEKHA3	65977	broad.mit.edu	37	2	179365828	179365828	+	Nonsense_Mutation	SNP	C	C	T	rs368349837		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179365828C>T	ENST00000234453.5	+	7	1102	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	234						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TACACTTCACCGACTCTCCCA	0.388																																						uc002umn.2		NA																	0				ovary(1)|kidney(1)	2						c.(700-702)CGA>TGA		pleckstrin homology domain containing, family A		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	109.0	106.0		700	4.9	1.0	2		106	0,8600		0,0,4300	no	stop-gained	PLEKHA3	NM_019091.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		234/301	179365828	1,13005	2203	4300	6503	SO:0001587	stop_gained	65977					cytoplasm|membrane		g.chr2:179365828C>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.700C>T	2.37:g.179365828C>T	ENSP00000234453:p.Arg234*						p.R234*	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		7	1098	+			234					Q4ZG69|Q86TQ1|Q9NXT3	Nonsense_Mutation	SNP	ENST00000234453.5	37	c.700C>T	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197183	0.79015	2.27E-4	0.0	ENSG00000116095	ENST00000234453;ENST00000421187	.	.	.	5.77	4.89	0.63831	.	0.475155	0.24113	N	0.041430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.5728	16.328	0.82994	0.133:0.867:0.0:0.0	.	.	.	.	X	234;43	.	ENSP00000234453:R234X	R	+	1	2	PLEKHA3	179074074	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	4.073000	0.57570	1.428000	0.47296	0.650000	0.86243	CGA		0.388	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		57	29	0	0	0	0	57	29				
TTN	7273	broad.mit.edu	37	2	179416824	179416824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:179416824G>A	ENST00000591111.1	-	285	86104	c.85880C>T	c.(85879-85881)tCa>tTa	p.S28627L	TTN_ENST00000342175.6_Missense_Mutation_p.S21395L|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S21203L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S21328L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S30268L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27700L|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28627	Fibronectin type-III 108. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTTAGTTTGTGAAGTTTCCCG	0.423																																						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.(83098-83100)TCA>TTA		titin isoform N2-A							142.0	143.0	142.0					2																	179416824		1997	4178	6175	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179416824G>A	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.85880C>T	2.37:g.179416824G>A	ENSP00000465570:p.Ser28627Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S21395L|TTN_uc010zfi.1_Missense_Mutation_p.S21328L|TTN_uc010zfj.1_Missense_Mutation_p.S21203L	p.S27700L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	83323	-			28627					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.83099C>T		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843739	0.71488	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73377	0.3579	M	0.67569	2.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73943	-0.3823	9	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	21203;21328;21395;28627	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	27700;21203;21395;21328;21200	ENSP00000343764:S27700L;ENSP00000434586:S21203L;ENSP00000340554:S21395L;ENSP00000352154:S21328L	ENSP00000340554:S21395L	S	-	2	0	TTN	179125070	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	TCA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	40	0	0	0	0	67	40				
COL5A2	1290	broad.mit.edu	37	2	189932835	189932835	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:189932835G>C	ENST00000374866.3	-	21	1581	c.1307C>G	c.(1306-1308)tCt>tGt	p.S436C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	436					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTACCTGGAGAGCCCTATTA	0.537																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(1306-1308)TCT>TGT		alpha 2 type V collagen preproprotein							80.0	80.0	80.0					2																	189932835		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189932835G>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1307C>G	2.37:g.189932835G>C	ENSP00000364000:p.Ser436Cys					COL5A2_uc010frx.2_Intron	p.S436C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		21	1582	-			436					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1307C>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653567	0.67472	.	.	ENSG00000204262	ENST00000374866	D	0.94457	-3.43	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000058	D	0.93462	0.7914	L	0.54965	1.715	0.37453	D	0.914899	P	0.46277	0.875	P	0.46975	0.533	D	0.93690	0.7006	9	.	.	.	.	13.1699	0.59591	0.0727:0.0:0.9273:0.0	.	436	P05997	CO5A2_HUMAN	C	436	ENSP00000364000:S436C	.	S	-	2	0	COL5A2	189641080	1.000000	0.71417	0.973000	0.42090	0.932000	0.56968	2.768000	0.47645	2.716000	0.92895	0.591000	0.81541	TCT		0.537	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		34	29	0	0	0	0	34	29				
CATIP	375307	broad.mit.edu	37	2	219229377	219229377	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:219229377G>A	ENST00000289388.3	+	7	686	c.657G>A	c.(655-657)caG>caA	p.Q219Q	C2orf62_ENST00000481940.1_Intron|AC021016.6_ENST00000441749.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		219					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCATCCAGGTAGACCATC	0.582																																						uc002vhr.2		NA																	0					0						c.(655-657)CAG>CAA		hypothetical protein LOC375307							83.0	74.0	77.0					2																	219229377		2203	4300	6503	SO:0001819	synonymous_variant	375307							g.chr2:219229377G>A																												ENST00000289388.3:c.657G>A	2.37:g.219229377G>A						C2orf62_uc002vhs.2_Intron	p.Q219Q	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	686	+		Renal(207;0.0915)	219						Silent	SNP	ENST00000289388.3	37	c.657G>A	CCDS2414.1																																																																																				0.582	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			24	11	0	0	0	0	24	11				
TRIP12	9320	broad.mit.edu	37	2	230643289	230643289	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:230643289T>C	ENST00000283943.5	-	35	5177	c.4999A>G	c.(4999-5001)Acc>Gcc	p.T1667A	TRIP12_ENST00000389045.3_Missense_Mutation_p.T1397A|TRIP12_ENST00000389044.4_Missense_Mutation_p.T1715A	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1667					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATATACTTGGTCCCTTCTTGG	0.403																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4999-5001)ACC>GCC		thyroid hormone receptor interactor 12							102.0	101.0	101.0					2																	230643289		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643289T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4999A>G	2.37:g.230643289T>C	ENSP00000283943:p.Thr1667Ala					TRIP12_uc002vpx.1_Missense_Mutation_p.T1715A|TRIP12_uc002vpy.1_Missense_Mutation_p.T1397A	p.T1667A	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	35	5108	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1667					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4999A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886742	0.51908	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.43294	0.95;1.3;0.95	5.74	5.74	0.90152	HECT (4);	0.095203	0.64402	D	0.000001	T	0.30696	0.0773	L	0.28115	0.83	0.80722	D	1	B;B;B	0.19583	0.037;0.021;0.021	B;B;B	0.22152	0.038;0.038;0.038	T	0.11743	-1.0575	10	0.09084	T	0.74	.	16.0331	0.80597	0.0:0.0:0.0:1.0	.	1397;1715;1667	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	A	1667;1397;1715	ENSP00000283943:T1667A;ENSP00000373697:T1397A;ENSP00000373696:T1715A	ENSP00000283943:T1667A	T	-	1	0	TRIP12	230351533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.603000	0.82811	2.182000	0.69389	0.482000	0.46254	ACC		0.403	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		30	39	0	0	0	0	30	39				
ITM2C	81618	broad.mit.edu	37	2	231742261	231742261	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:231742261G>A	ENST00000326427.6	+	5	834	c.708G>A	c.(706-708)cgG>cgA	p.R236R	ITM2C_ENST00000335005.6_Silent_p.R189R|ITM2C_ENST00000409704.2_Silent_p.R174R|ITM2C_ENST00000326407.6_Silent_p.R199R	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	236					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCAACGCGGAGGCGTGAGT	0.622																																						uc002vqz.2		NA																	0					0						c.(706-708)CGG>CGA		integral membrane protein 2C isoform 1							71.0	72.0	72.0					2																	231742261		2203	4300	6503	SO:0001819	synonymous_variant	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231742261G>A	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.708G>A	2.37:g.231742261G>A						ITM2C_uc002vra.2_Silent_p.R189R|ITM2C_uc002vrb.2_Silent_p.R199R|ITM2C_uc002vrc.2_Silent_p.R125R|ITM2C_uc002vrd.2_Silent_p.R88R	p.R236R	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	5	828	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	236					B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Silent	SNP	ENST00000326427.6	37	c.708G>A	CCDS2479.1																																																																																				0.622	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		23	26	0	0	0	0	23	26				
EIF4E2	9470	broad.mit.edu	37	2	233421129	233421129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr2:233421129G>C	ENST00000258416.3	+	2	697	c.24G>C	c.(22-24)ttG>ttC	p.L8F	EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000409394.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409098.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409514.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409167.3_Missense_Mutation_p.L8F|EIF4E2_ENST00000409495.1_Missense_Mutation_p.L8F|EIF4E2_ENST00000409322.1_Missense_Mutation_p.L8F	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	8				MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871). {ECO:0000305}.	cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CATTCAGTTTGAAAGATGATG	0.413																																						uc002vta.2		NA																	0					0						c.(22-24)TTG>TTC		eukaryotic translation initiation factor 4E							142.0	121.0	128.0					2																	233421129		2203	4300	6503	SO:0001583	missense	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233421129G>C	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.24G>C	2.37:g.233421129G>C	ENSP00000258416:p.Leu8Phe					EIF4E2_uc002vtb.1_Missense_Mutation_p.L8F|EIF4E2_uc002vsz.2_Missense_Mutation_p.L8F|EIF4E2_uc010zmi.1_Missense_Mutation_p.L8F	p.L8F	NM_004846	NP_004837	O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	2	102	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	8	MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871).				B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	c.24G>C	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538981	0.65085	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.56275	1.08;1.08;1.08;1.08;0.48;0.47;0.5;1.08	5.78	4.89	0.63831	.	0.000000	0.64402	D	0.000002	T	0.62672	0.2447	M	0.66939	2.045	0.42896	D	0.994219	D;D;D;D	0.63046	0.975;0.992;0.978;0.978	P;P;P;P	0.58013	0.591;0.831;0.753;0.753	T	0.66352	-0.5945	10	0.72032	D	0.01	-27.978	8.2011	0.31426	0.1804:0.0:0.8196:0.0	.	8;8;8;8	B4E1E4;B8ZZJ9;O60573;B8ZZ50	.;.;IF4E2_HUMAN;.	F	8;8;8;8;8;8;8;3	ENSP00000258416:L8F;ENSP00000387336:L8F;ENSP00000386996:L8F;ENSP00000386876:L8F;ENSP00000387328:L8F;ENSP00000386424:L8F;ENSP00000386983:L8F;ENSP00000390904:L3F	ENSP00000258416:L8F	L	+	3	2	EIF4E2	233129373	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.318000	0.43779	1.427000	0.47276	0.650000	0.86243	TTG		0.413	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846		14	11	0	0	0	0	14	11				
DEFB126	81623	broad.mit.edu	37	20	126135	126135	+	Missense_Mutation	SNP	G	G	C	rs182093028		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:126135G>C	ENST00000382398.3	+	2	398	c.138G>C	c.(136-138)aaG>aaC	p.K46N	DEFB126_ENST00000542572.1_Intron	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	46					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCATGTAAAGAATGGTTGGG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20516	0.0		0.001	False		,,,				2504	0.0					uc002wcx.2		NA																	0					0						c.(136-138)AAG>AAC		defensin, beta 126 preproprotein							188.0	169.0	175.0					20																	126135		2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126135G>C		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.138G>C	20.37:g.126135G>C	ENSP00000371835:p.Lys46Asn						p.K46N	NM_030931	NP_112193	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	156	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	46					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.138G>C	CCDS12990.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.014	-1.606092	0.00842	.	.	ENSG00000125788	ENST00000382398	T	0.11930	2.73	3.66	-7.32	0.01436	.	4.244120	0.00582	N	0.000320	T	0.07369	0.0186	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.49916	-0.8888	10	0.42905	T	0.14	0.9282	1.95	0.03364	0.1447:0.2921:0.3482:0.215	.	46	Q9BYW3	DB126_HUMAN	N	46	ENSP00000371835:K46N	ENSP00000371835:K46N	K	+	3	2	DEFB126	74135	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.009000	0.00160	-7.882000	0.00000	-2.717000	0.00132	AAG		0.403	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		27	55	0	0	0	0	27	55				
ATRN	8455	broad.mit.edu	37	20	3553417	3553417	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:3553417C>T	ENST00000262919.5	+	12	1979	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	ATRN_ENST00000446916.2_Silent_p.L637L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	637					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCTCCTCCTCAGCGACATCC	0.468																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(1909-1911)CTC>CTT		attractin isoform 1							150.0	118.0	129.0					20																	3553417		2203	4300	6503	SO:0001819	synonymous_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3553417C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1911C>T	20.37:g.3553417C>T						ATRN_uc002wil.2_Silent_p.L637L	p.L637L	NM_139321	NP_647537	O75882	ATRN_HUMAN			12	2001	+			637			Extracellular (Potential).|Kelch 6.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	c.1911C>T	CCDS13053.1																																																																																				0.468	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		40	110	0	0	0	0	40	110				
POLR3F	10621	broad.mit.edu	37	20	18448199	18448199	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:18448199G>A	ENST00000377603.4	+	1	429	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	POLR3F_ENST00000462997.1_3'UTR|DZANK1_ENST00000357236.4_5'Flank|DZANK1_ENST00000329494.5_5'Flank|DZANK1_ENST00000262547.5_5'Flank|DZANK1_ENST00000358866.6_5'Flank	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	17					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						GGATCCGGTCGAAATAGAAAA	0.622																																					GBM(69;898 1468 19907 52011)	uc002wqv.2		NA																	0					0						c.(49-51)GAA>AAA		DNA-directed RNA polymerase III 39 kDa							50.0	52.0	51.0					20																	18448199		2203	4300	6503	SO:0001583	missense	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18448199G>A	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.49G>A	20.37:g.18448199G>A	ENSP00000366828:p.Glu17Lys					C20orf12_uc002wqr.3_5'Flank|C20orf12_uc002wqs.3_5'Flank|C20orf12_uc002wqq.3_5'Flank|C20orf12_uc010zsa.1_5'Flank|C20orf12_uc002wqu.1_5'Flank|C20orf12_uc010gct.1_5'Flank|POLR3F_uc002wqw.2_RNA|POLR3F_uc002wqx.2_5'UTR	p.E17K	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN			1	167	+			17					A8K4C7|O15319	Missense_Mutation	SNP	ENST00000377603.4	37	c.49G>A	CCDS13135.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525581	0.85600	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.87	5.87	0.94306	.	0.143371	0.64402	D	0.000008	T	0.51635	0.1686	L	0.48642	1.525	0.80722	D	1	P	0.35139	0.486	B	0.34346	0.18	T	0.43147	-0.9409	9	0.17369	T	0.5	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	17	Q9H1D9	RPC6_HUMAN	K	17	.	ENSP00000366828:E17K	E	+	1	0	POLR3F	18396199	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	7.592000	0.82676	2.941000	0.99782	0.655000	0.94253	GAA		0.622	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		22	40	0	0	0	0	22	40				
RALGAPA2	57186	broad.mit.edu	37	20	20601168	20601168	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:20601168C>G	ENST00000202677.7	-	11	1347	c.1340G>C	c.(1339-1341)aGa>aCa	p.R447T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	447					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACATCTTTTCTATCTGGCTC	0.393																																						uc002wrz.2		NA																	0				ovary(1)	1						c.(1339-1341)AGA>ACA		akt substrate AS250							99.0	97.0	98.0					20																	20601168		1854	4090	5944	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20601168C>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1340G>C	20.37:g.20601168C>G	ENSP00000202677:p.Arg447Thr					RALGAPA2_uc010gcx.2_Missense_Mutation_p.R151T|RALGAPA2_uc010zsg.1_5'UTR	p.R447T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			11	1483	-			447					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.1340G>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.754|9.754	1.168179|1.168179	0.21621|0.21621	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.76186	.|-1.0	5.6|5.6	0.161|0.161	0.14977|0.14977	.|.	.|0.348575	.|0.35838	.|N	.|0.002944	T|T	0.38427|0.38427	0.1040|0.1040	N|N	0.02011|0.02011	-0.69|-0.69	0.24896|0.24896	N|N	0.992135|0.992135	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.20706|0.20706	-1.0267|-1.0267	5|10	.|0.20046	.|T	.|0.44	.|.	3.017|3.017	0.06063|0.06063	0.3463:0.0645:0.1131:0.4762|0.3463:0.0645:0.1131:0.4762	.|.	.|447	.|Q2PPJ7	.|RGPA2_HUMAN	Q|T	264|447	.|ENSP00000202677:R447T	.|ENSP00000202677:R447T	E|R	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20549168|20549168	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.987000|0.987000	0.75469|0.75469	1.026000|1.026000	0.30103|0.30103	-0.218000|-0.218000	0.10018|0.10018	-0.290000|-0.290000	0.09829|0.09829	GAA|AGA		0.393	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		31	47	0	0	0	0	31	47				
TP53INP2	58476	broad.mit.edu	37	20	33297096	33297096	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33297096C>G	ENST00000374810.3	+	4	570	c.181C>G	c.(181-183)Ccg>Gcg	p.P61A	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Missense_Mutation_p.P61A	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	61					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						gggccgccctccgcccgcgcc	0.741																																						uc002xau.1		NA																	0					0						c.(181-183)CCG>GCG		tumor protein p53 inducible nuclear protein 2							7.0	8.0	8.0					20																	33297096		2044	4151	6195	SO:0001583	missense	58476					nucleus		g.chr20:33297096C>G	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.181C>G	20.37:g.33297096C>G	ENSP00000363943:p.Pro61Ala						p.P61A	NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN			4	516	+			61					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Missense_Mutation	SNP	ENST00000374810.3	37	c.181C>G	CCDS13240.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083457	0.55861	.	.	ENSG00000078804	ENST00000374810;ENST00000374809;ENST00000414082	T;T;T	0.30981	1.51;1.51;1.51	3.73	3.73	0.42828	.	0.160747	0.42053	D	0.000767	T	0.27933	0.0688	L	0.43923	1.385	0.43988	D	0.996683	B	0.21606	0.058	B	0.24701	0.055	T	0.07233	-1.0783	10	0.21540	T	0.41	-8.1197	16.3999	0.83637	0.0:1.0:0.0:0.0	.	61	Q8IXH6	T53I2_HUMAN	A	61	ENSP00000363943:P61A;ENSP00000363942:P61A;ENSP00000404410:P61A	ENSP00000363942:P61A	P	+	1	0	TP53INP2	32760757	0.945000	0.32115	0.996000	0.52242	0.965000	0.64279	6.305000	0.72805	2.387000	0.81309	0.561000	0.74099	CCG		0.741	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202		7	8	0	0	0	0	7	8				
MMP24	10893	broad.mit.edu	37	20	33862274	33862274	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:33862274G>A	ENST00000246186.6	+	9	1885	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000435366.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	600					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CGGGCTCCGTGAACGCCGTGG	0.627																																						uc002xbu.2		NA																	0					0						c.(1798-1800)GTG>GTA		matrix metalloproteinase 24 preproprotein							103.0	116.0	112.0					20																	33862274		2180	4255	6435	SO:0001819	synonymous_variant	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33862274G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1800G>A	20.37:g.33862274G>A						EDEM2_uc010zuv.1_Intron	p.V600V	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		9	1803	+			600			Extracellular (Potential).		B7ZBG8|Q9H440	Silent	SNP	ENST00000246186.6	37	c.1800G>A	CCDS46593.1																																																																																				0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		37	64	0	0	0	0	37	64				
DLGAP4	22839	broad.mit.edu	37	20	35155433	35155433	+	Nonstop_Mutation	SNP	G	G	C	rs563592526		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:35155433G>C	ENST00000373907.2	+	12	3177	c.2978G>C	c.(2977-2979)tGa>tCa	p.*993S	DLGAP4_ENST00000339266.5_Nonstop_Mutation_p.*993S|DLGAP4_ENST00000401952.2_Nonstop_Mutation_p.*990S|DLGAP4_ENST00000373913.3_Nonstop_Mutation_p.*990S|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Nonstop_Mutation_p.*454S|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	0					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCAGGCTCTGAGACCATGCA	0.502																																						uc002xff.2		NA																	0				skin(2)|ovary(1)	3						c.(2968-2970)TGA>TCA		disks large-associated protein 4 isoform a							30.0	32.0	31.0					20																	35155433		2203	4300	6503	SO:0001578	stop_lost	22839				cell-cell signaling	membrane	protein binding	g.chr20:35155433G>C	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2978G>C	20.37:g.35155433G>C	ENSP00000363014:p.*993Serext*10					DLGAP4_uc010zvp.1_Nonstop_Mutation_p.*990S|DLGAP4_uc002xfg.2_Nonstop_Mutation_p.*286S|DLGAP4_uc002xfh.2_Nonstop_Mutation_p.*454S|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Nonstop_Mutation_p.*286S|uc002xfk.3_Intron	p.*990S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			13	3404	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	990					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Nonstop_Mutation	SNP	ENST00000373907.2	37	c.2969G>C		.	.	.	.	.	.	.	.	.	.	G	17.65	3.441335	0.63067	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	.	.	.	5.91	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2649	0.49104	0.1488:0.0:0.8512:0.0	.	.	.	.	S	990;990;993;993;454	.	.	X	+	2	2	DLGAP4	34588847	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.876000	0.87215	0.822000	0.34565	0.462000	0.41574	TGA		0.502	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		20	25	0	0	0	0	20	25				
SRSF6	6431	broad.mit.edu	37	20	42088733	42088733	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42088733G>C	ENST00000244020.3	+	4	548	c.442G>C	c.(442-444)Gag>Cag	p.E148Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	148	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ACGAACAAATGAGGGTGTAAT	0.418																																						uc010zwg.1		NA																	0					0						c.(442-444)GAG>CAG		arginine/serine-rich splicing factor 6							138.0	136.0	137.0					20																	42088733		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088733G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.442G>C	20.37:g.42088733G>C	ENSP00000244020:p.Glu148Gln					SFRS6_uc002xki.2_Missense_Mutation_p.E19Q|SFRS6_uc002xkk.2_Missense_Mutation_p.E148Q	p.E148Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	612	+		Myeloproliferative disorder(115;0.00452)	148			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.442G>C	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137728	0.37728	.	.	ENSG00000124193	ENST00000244020	T	0.16073	2.37	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043330	0.85682	D	0.000000	T	0.41119	0.1145	M	0.64260	1.97	0.80722	D	1	D;P	0.60575	0.988;0.883	D;P	0.65323	0.934;0.833	T	0.04373	-1.0956	10	0.87932	D	0	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	148;148	Q13247;A8K588	SRSF6_HUMAN;.	Q	148	ENSP00000244020:E148Q	ENSP00000244020:E148Q	E	+	1	0	SRSF6	41522147	1.000000	0.71417	0.975000	0.42487	0.006000	0.05464	7.826000	0.86716	2.894000	0.99253	0.591000	0.81541	GAG		0.418	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		23	51	0	0	0	0	23	51				
JPH2	57158	broad.mit.edu	37	20	42815224	42815224	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:42815224G>C	ENST00000372980.3	-	1	994	c.122C>G	c.(121-123)tCc>tGc	p.S41C	JPH2_ENST00000342272.3_Missense_Mutation_p.S41C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	41	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAAGTTCCAGGAGCCAGAGTA	0.617																																						uc002xli.1		NA																	0					0						c.(121-123)TCC>TGC		junctophilin 2 isoform 1							56.0	50.0	52.0					20																	42815224		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815224G>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.122C>G	20.37:g.42815224G>C	ENSP00000362071:p.Ser41Cys					JPH2_uc002xlj.2_Missense_Mutation_p.S41C	p.S41C	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	995	-		Myeloproliferative disorder(115;0.0122)	41			Gly-rich.|Cytoplasmic (Potential).|MORN 2.		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.122C>G	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.337988	0.41398	.	.	ENSG00000149596	ENST00000372980;ENST00000342272	T;T	0.55760	0.91;0.5	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	L	0.33753	1.03	0.58432	D	0.999999	B;D	0.89917	0.018;1.0	B;D	0.87578	0.029;0.998	T	0.64592	-0.6371	10	0.44086	T	0.13	.	17.4267	0.87528	0.0:0.0:1.0:0.0	.	41;41	Q9BR39-2;Q9BR39	.;JPH2_HUMAN	C	41	ENSP00000362071:S41C;ENSP00000344590:S41C	ENSP00000344590:S41C	S	-	2	0	JPH2	42248638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.372000	0.97165	2.100000	0.63781	0.556000	0.70494	TCC		0.617	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			10	24	0	0	0	0	10	24				
KCNK15	60598	broad.mit.edu	37	20	43374746	43374746	+	Silent	SNP	G	G	A	rs112757483		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43374746G>A	ENST00000372861.3	+	1	326	c.195G>A	c.(193-195)ctG>ctA	p.L65L	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	65					regulation of ion transmembrane transport (GO:0034765)	integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGGAGCGCCTGGCGCTCCAGG	0.697																																						uc002xmr.2		NA																	0					0						c.(193-195)CTG>CTA		potassium family, subfamily K, member 15							8.0	11.0	10.0					20																	43374746		2149	4245	6394	SO:0001819	synonymous_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43374746G>A	AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14		11409881, 11431495, 16382106	Standard	NM_022358		Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.195G>A	20.37:g.43374746G>A							p.L65L	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			1	259	+		Myeloproliferative disorder(115;0.0122)	65					Q52LL3|Q9HBC8	Silent	SNP	ENST00000372861.3	37	c.195G>A	CCDS13337.1																																																																																				0.697	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2	NM_022358		6	11	0	0	0	0	6	11				
PABPC1L	80336	broad.mit.edu	37	20	43566728	43566728	+	Missense_Mutation	SNP	G	G	A	rs368203711		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:43566728G>A	ENST00000217073.2	+	13	1672	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	PABPC1L_ENST00000372819.1_Missense_Mutation_p.D112N|PABPC1L_ENST00000217075.2_Missense_Mutation_p.D112N|PABPC1L_ENST00000255136.3_Missense_Mutation_p.D558N|PABPC1L_ENST00000372824.1_Missense_Mutation_p.D112N|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	558	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCTTATCCATGATGTCCACAC	0.572																																						uc010ggv.1		NA																	0				ovary(1)	1						c.(1672-1674)GAT>AAT		poly(A)-binding protein, cytoplasmic 1-like		G	ASN/ASP	0,3136		0,0,1568	70.0	61.0	64.0		1672	-1.2	0.0	20		64	1,7163		0,1,3581	no	missense	PABPC1L	NM_001124756.1	23	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	558/615	43566728	1,10299	1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43566728G>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1672G>A	20.37:g.43566728G>A	ENSP00000217073:p.Asp558Asn					PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.D112N|PABPC1L_uc002xmx.2_Missense_Mutation_p.D112N	p.D558N	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			13	1754	+			558			PABC.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.1672G>A	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.27|11.27	1.588168|1.588168	0.28357|0.28357	0.0|0.0	1.4E-4|1.4E-4	ENSG00000101104|ENSG00000101104	ENST00000255136;ENST00000421240;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075|ENST00000372821;ENST00000372826;ENST00000372822	T;T;T;T;T|T	0.41065|0.44881	1.01;1.01;1.01;1.01;1.01|0.91	4.72|4.72	-1.19|-1.19	0.09585|0.09585	Polyadenylate-binding protein/Hyperplastic disc protein (5);|.	1.424290|.	0.03779|.	N|.	0.261101|.	T|T	0.22742|0.22742	0.0549|0.0549	N|N	0.11064|0.11064	0.09|0.09	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.0;0.002|.	B;B|.	0.10450|.	0.005;0.001|.	T|T	0.24225|0.24225	-1.0166|-1.0166	10|7	0.30854|0.66056	T|D	0.27|0.02	.|.	5.5965|5.5965	0.17329|0.17329	0.3217:0.129:0.5494:0.0|0.3217:0.129:0.5494:0.0	.|.	558;112|.	Q4VXU2;G5E9L3|.	PAP1L_HUMAN;.|.	N|I	558;112;558;112;112;112|139;93;80	ENSP00000255136:D558N;ENSP00000217073:D558N;ENSP00000361911:D112N;ENSP00000361906:D112N;ENSP00000217075:D112N|ENSP00000361909:M80I	ENSP00000217073:D558N|ENSP00000361908:M139I	D|M	+|+	1|3	0|0	PABPC1L|PABPC1L	43000142|43000142	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.976000|0.976000	0.68499|0.68499	0.378000|0.378000	0.20569|0.20569	-0.366000|-0.366000	0.08064|0.08064	0.591000|0.591000	0.81541|0.81541	GAT|ATG		0.572	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			21	29	0	0	0	0	21	29				
DNTTIP1	116092	broad.mit.edu	37	20	44433831	44433831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:44433831C>G	ENST00000372622.3	+	9	718	c.650C>G	c.(649-651)tCt>tGt	p.S217C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	217						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GTGTTGGGATCTCGAGCCAAC	0.463																																						uc002xpk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(649-651)TCT>TGT		terminal deoxynucleotidyltransferase interacting							196.0	200.0	199.0					20																	44433831		2203	4300	6503	SO:0001583	missense	116092					nucleus		g.chr20:44433831C>G	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.650C>G	20.37:g.44433831C>G	ENSP00000361705:p.Ser217Cys						p.S217C	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			9	718	+		Myeloproliferative disorder(115;0.0122)	217					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.650C>G	CCDS13369.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.3|23.3|23.3	4.404473|4.404473|4.404473	0.83230|0.83230|0.83230	.|.|.	.|.|.	ENSG00000101457|ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000435014|ENST00000372622	.|.|T	.|.|0.52057	.|.|0.68	4.86|4.86|4.86	4.86|4.86|4.86	0.63082|0.63082|0.63082	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.57755|0.57755|0.57755	0.2075|0.2075|0.2075	M|M|M	0.68952|0.68952|0.68952	2.095|2.095|2.095	0.58432|0.58432|0.58432	D|D|D	0.999992|0.999992|0.999992	.|.|P	.|.|0.48503	.|.|0.911	.|.|P	.|.|0.49752	.|.|0.621	T|T|T	0.63773|0.63773|0.63773	-0.6561|-0.6561|-0.6561	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-4.2971|-4.2971|-4.2971	16.7089|16.7089|16.7089	0.85380|0.85380|0.85380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|217	.|.|Q9H147	.|.|TDIF1_HUMAN	M|V|C	167|144|217	.|.|ENSP00000361705:S217C	.|.|ENSP00000361705:S217C	I|L|S	+|+|+	3|1|2	3|0|0	DNTTIP1|DNTTIP1|DNTTIP1	43867238|43867238|43867238	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	5.695000|5.695000|5.695000	0.68279|0.68279|0.68279	2.512000|2.512000|2.512000	0.84698|0.84698|0.84698	0.514000|0.514000|0.514000	0.50259|0.50259|0.50259	ATC|CTC|TCT		0.463	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		96	151	0	0	0	0	96	151				
STAU1	6780	broad.mit.edu	37	20	47733708	47733708	+	Silent	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:47733708C>G	ENST00000371856.2	-	12	1997	c.1587G>C	c.(1585-1587)ctG>ctC	p.L529L	STAU1_ENST00000347458.5_Silent_p.L448L|STAU1_ENST00000360426.4_Silent_p.L448L|STAU1_ENST00000340954.7_Silent_p.L448L|STAU1_ENST00000371792.1_Silent_p.L446L|STAU1_ENST00000371802.1_Silent_p.L454L|STAU1_ENST00000371828.3_Silent_p.L454L	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	529					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CATGGCTGATCAGAGGTGGCT	0.478																																						uc002xud.2		NA																	0				ovary(4)|kidney(1)	5						c.(1585-1587)CTG>CTC		staufen isoform b							193.0	178.0	183.0					20																	47733708		2203	4300	6503	SO:0001819	synonymous_variant	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47733708C>G		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1587G>C	20.37:g.47733708C>G						STAU1_uc002xua.2_Silent_p.L448L|STAU1_uc002xub.2_Silent_p.L454L|STAU1_uc002xuc.2_Silent_p.L448L|STAU1_uc002xue.2_Silent_p.L448L|STAU1_uc002xuf.2_Silent_p.L454L|STAU1_uc002xug.2_Silent_p.L529L	p.L529L	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		12	1998	-			529					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	ENST00000371856.2	37	c.1587G>C	CCDS13414.1																																																																																				0.478	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		28	32	0	0	0	0	28	32				
ZNF217	7764	broad.mit.edu	37	20	52198855	52198855	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:52198855G>A	ENST00000371471.2	-	2	936	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.L171F			O75362	ZN217_HUMAN	zinc finger protein 217	171					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGATTTTTAAGAAACCAAGGC	0.463																																						uc002xwq.3		NA																	0				skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(511-513)CTT>TTT		zinc finger protein 217							161.0	162.0	162.0					20																	52198855		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198855G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.511C>T	20.37:g.52198855G>A	ENSP00000360526:p.Leu171Phe					ZNF217_uc010gij.1_Missense_Mutation_p.L163F	p.L171F	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	782	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		171			C2H2-type 3.		E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.511C>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316825	0.81469	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.73897	-0.79;-0.79	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.82614	0.5075	L	0.60067	1.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82985	-0.0185	10	0.56958	D	0.05	-26.7489	12.2158	0.54406	0.0793:0.0:0.9207:0.0	.	171	O75362	ZN217_HUMAN	F	171	ENSP00000360526:L171F;ENSP00000304308:L171F	ENSP00000304308:L171F	L	-	1	0	ZNF217	51632262	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	4.773000	0.62331	2.607000	0.88179	0.655000	0.94253	CTT		0.463	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		64	125	0	0	0	0	64	125				
ZBP1	81030	broad.mit.edu	37	20	56188387	56188387	+	Splice_Site	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:56188387C>G	ENST00000371173.3	-	5	680		c.e5-1		ZBP1_ENST00000340462.4_Splice_Site|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000541799.1_Splice_Site|ZBP1_ENST00000395822.3_Splice_Site|ZBP1_ENST00000343535.4_Splice_Site	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1						innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCAGAATCTTCTGCAAAATAA	0.448																																						uc002xyo.2		NA																	0				ovary(2)	2						c.e5-1		Z-DNA binding protein 1 isoform a							143.0	134.0	137.0					20																	56188387		2203	4300	6503	SO:0001630	splice_region_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56188387C>G	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.503-1G>C	20.37:g.56188387C>G						ZBP1_uc010gjm.2_Intron|ZBP1_uc002xyp.2_Splice_Site_p.E93_splice|ZBP1_uc010zzn.1_Intron	p.E168_splice	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	784	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)							A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Splice_Site	SNP	ENST00000371173.3	37	c.503_splice	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844573	0.16963	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535;ENST00000541799	.	.	.	3.36	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5147	0.44883	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZBP1	55621793	0.693000	0.27728	0.135000	0.22099	0.070000	0.16714	0.931000	0.28871	2.193000	0.70182	0.462000	0.41574	.		0.448	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	Intron	51	74	0	0	0	0	51	74				
CDH26	60437	broad.mit.edu	37	20	58571732	58571732	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:58571732G>A	ENST00000244047.5	+	13	2246	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	CDH26_ENST00000244049.3_Intron|CDH26_ENST00000348616.4_Silent_p.K645K|CDH26_ENST00000350849.6_Intron|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26	645					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGAACCTAAGAGGCATGGAT	0.453																																						uc002ybe.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1933-1935)AAG>AAA		cadherin-like 26 isoform a							274.0	245.0	255.0					20																	58571732		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571732G>A	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1935G>A	20.37:g.58571732G>A						CDH26_uc002ybf.1_Silent_p.K225K|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Silent_p.K159K|CDH26_uc002ybh.2_Intron|CDH26_uc002ybi.2_Intron	p.K645K	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		13	2235	+	all_lung(29;0.00963)		645			Cytoplasmic (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1935G>A		.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312376	0.05422	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.25	2.23	0.28157	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.21280	-1.0250	4	.	.	.	.	6.8248	0.23876	0.101:0.1788:0.7202:0.0	.	.	.	.	K	237	.	.	R	+	2	0	CDH26	58005127	0.002000	0.14202	0.002000	0.10522	0.020000	0.10135	0.966000	0.29331	0.336000	0.23639	0.655000	0.94253	AGA		0.453	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		75	125	0	0	0	0	75	125				
ARFGAP1	55738	broad.mit.edu	37	20	61907878	61907878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61907878G>C	ENST00000370283.4	+	4	357	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	ARFGAP1_ENST00000547204.1_5'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E73Q|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.E73Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E20Q	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	73	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CATTGAGCTTGAGAAGATGAA	0.522																																						uc002yem.2		NA																	0				pancreas(1)	1						c.(217-219)GAG>CAG		ADP-ribosylation factor GTPase activating							132.0	108.0	116.0					20																	61907878		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907878G>C	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.217G>C	20.37:g.61907878G>C	ENSP00000359306:p.Glu73Gln					ARFGAP1_uc011aas.1_Missense_Mutation_p.E20Q|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.E73Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E73Q	p.E73Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			4	329	+	all_cancers(38;1.59e-09)		73			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.217G>C	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686626	0.68157	.	.	ENSG00000101199	ENST00000370283;ENST00000523114;ENST00000519604;ENST00000370275;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.48218	1.51	0.80722	D	1	D;P;D;P	0.76494	0.999;0.662;0.975;0.94	D;B;P;B	0.77557	0.99;0.27;0.698;0.408	T	0.59695	-0.7406	10	0.49607	T	0.09	-27.5908	18.117	0.89559	0.0:0.0:1.0:0.0	.	20;73;73;73	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	Q	73;73;20;73;73;73;73	ENSP00000359306:E73Q;ENSP00000428355:E73Q;ENSP00000430500:E20Q;ENSP00000359298:E73Q;ENSP00000314615:E73Q;ENSP00000430929:E73Q;ENSP00000449515:E73Q	ENSP00000314615:E73Q	E	+	1	0	ARFGAP1	61378323	1.000000	0.71417	0.987000	0.45799	0.833000	0.47200	7.390000	0.79816	2.345000	0.79718	0.563000	0.77884	GAG		0.522	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		22	31	0	0	0	0	22	31				
CHRNA4	1137	broad.mit.edu	37	20	61982264	61982264	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:61982264A>C	ENST00000370263.4	-	5	720	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	167					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	AAGGGGAAGAAGGTGACGTCG	0.607																																						uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(499-501)TTC>GTC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						123.0	111.0	115.0					20																	61982264		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982264A>C		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.499T>G	20.37:g.61982264A>C	ENSP00000359285:p.Phe167Val					CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.F96V|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.F167V	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	677	-	all_cancers(38;1.71e-10)		167			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.499T>G	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682919	0.88542	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.77098	-1.07	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.923	D	0.92334	0.5876	10	0.87932	D	0	.	14.4626	0.67462	1.0:0.0:0.0:0.0	.	96;167	Q4VAQ5;P43681	.;ACHA4_HUMAN	V	73;167;96	ENSP00000359285:F167V	ENSP00000359280:F73V	F	-	1	0	CHRNA4	61452708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.135000	0.94478	1.806000	0.52798	0.459000	0.35465	TTC		0.607	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			33	53	0	0	0	0	33	53				
MYT1	4661	broad.mit.edu	37	20	62837064	62837064	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr20:62837064C>G	ENST00000328439.1	+	6	672	c.308C>G	c.(307-309)tCt>tGt	p.S103C	MYT1_ENST00000360149.4_Missense_Mutation_p.S103C|MYT1_ENST00000536311.1_Missense_Mutation_p.S103C	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0			E -> Q (in dbSNP:rs55834293). {ECO:0000269|PubMed:17344846}.		G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGGACGCCTCTGTTTCGGAT	0.597																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(307-309)TCT>TGT		myelin transcription factor 1							75.0	67.0	70.0					20																	62837064		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62837064C>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.308C>G	20.37:g.62837064C>G	ENSP00000327465:p.Ser103Cys					MYT1_uc002yih.2_Missense_Mutation_p.S103C|MYT1_uc002yij.2_5'Flank	p.S103C	NM_004535	NP_004526	Q01538	MYT1_HUMAN			6	672	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		103					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.308C>G	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149114	0.57151	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.47869	0.83;1.47;1.47	5.58	5.58	0.84498	.	0.401283	0.26522	N	0.023906	T	0.66742	0.2820	L	0.59436	1.845	0.25761	N	0.984944	D;D	0.76494	0.999;0.99	D;D	0.70716	0.97;0.936	T	0.61574	-0.7035	10	0.72032	D	0.01	-16.9797	19.1903	0.93663	0.0:1.0:0.0:0.0	.	103;103	Q01538;Q6P6D5	MYT1_HUMAN;.	C	103	ENSP00000353269:S103C;ENSP00000327465:S103C;ENSP00000442412:S103C	ENSP00000327465:S103C	S	+	2	0	MYT1	62307508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.993000	0.70616	2.642000	0.89623	0.655000	0.94253	TCT		0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		6	13	0	0	0	0	6	13				
LTN1	26046	broad.mit.edu	37	21	30359144	30359144	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:30359144G>C	ENST00000361371.5	-	2	233	c.154C>G	c.(154-156)Caa>Gaa	p.Q52E	LTN1_ENST00000389194.2_Missense_Mutation_p.Q98E|LTN1_ENST00000389195.2_Missense_Mutation_p.Q98E			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	52					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAGCTCCTTGAATAGCAGGA	0.428																																						uc002ymr.2		NA																	0					0						c.(292-294)CAA>GAA		zinc finger protein 294							85.0	86.0	85.0					21																	30359144		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359144G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.154C>G	21.37:g.30359144G>C	ENSP00000354977:p.Gln52Glu					RNF160_uc010gll.1_RNA	p.Q98E	NM_015565	NP_056380	O94822	LTN1_HUMAN			2	305	-			52					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.292C>G		.	.	.	.	.	.	.	.	.	.	G	16.14	3.038703	0.55003	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.22539	2.28;2.29;1.95	4.83	4.83	0.62350	.	0.196250	0.45126	D	0.000386	T	0.23492	0.0568	M	0.66939	2.045	0.58432	D	0.999992	P	0.47762	0.9	B	0.41764	0.366	T	0.16247	-1.0409	10	0.02654	T	1	.	18.1275	0.89590	0.0:0.0:1.0:0.0	.	52	O94822	LTN1_HUMAN	E	98;52;52;98	ENSP00000373846:Q98E;ENSP00000354977:Q52E;ENSP00000373847:Q98E	ENSP00000354977:Q52E	Q	-	1	0	LTN1	29281015	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.297000	0.78799	2.514000	0.84764	0.561000	0.74099	CAA		0.428	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		36	61	0	0	0	0	36	61				
TIAM1	7074	broad.mit.edu	37	21	32492803	32492803	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32492803G>C	ENST00000286827.3	-	29	5130	c.4659C>G	c.(4657-4659)ctC>ctG	p.L1553L	TIAM1_ENST00000541036.1_Silent_p.L1493L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1553					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCTTCTTGAGCTGTGCCA	0.597																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4657-4659)CTC>CTG		T-cell lymphoma invasion and metastasis 1							77.0	71.0	73.0					21																	32492803		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492803G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4659C>G	21.37:g.32492803G>C						TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.L1493L	p.L1553L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			29	5131	-			1553					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.4659C>G	CCDS13609.1																																																																																				0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		33	36	0	0	0	0	33	36				
TIAM1	7074	broad.mit.edu	37	21	32513499	32513499	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513499G>A	ENST00000286827.3	-	23	4182	c.3711C>T	c.(3709-3711)atC>atT	p.I1237I	TIAM1_ENST00000541036.1_Silent_p.I1177I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1237					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCTTCATGGATTTTCTGCA	0.463																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3709-3711)ATC>ATT		T-cell lymphoma invasion and metastasis 1							98.0	88.0	91.0					21																	32513499		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513499G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3711C>T	21.37:g.32513499G>A						TIAM1_uc011adk.1_Silent_p.I1237I|TIAM1_uc011adl.1_Silent_p.I1177I	p.I1237I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			23	4183	-			1237					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3711C>T	CCDS13609.1																																																																																				0.463	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		28	38	0	0	0	0	28	38				
TIAM1	7074	broad.mit.edu	37	21	32513759	32513759	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32513759G>A	ENST00000286827.3	-	22	4010	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1120F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1180	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTCCAGCGTGGATGAGTGCTG	0.577																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3538-3540)TCC>TTC		T-cell lymphoma invasion and metastasis 1							165.0	141.0	149.0					21																	32513759		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513759G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3539C>T	21.37:g.32513759G>A	ENSP00000286827:p.Ser1180Phe					TIAM1_uc011adk.1_Missense_Mutation_p.S1180F|TIAM1_uc011adl.1_Missense_Mutation_p.S1120F	p.S1180F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			22	4011	-			1180			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3539C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648399	0.87958	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.62498	0.02;0.02	5.54	4.62	0.57501	Dbl homology (DH) domain (5);	0.123553	0.56097	D	0.000028	T	0.66906	0.2837	L	0.35487	1.065	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.974	P;P;P	0.60236	0.796;0.871;0.566	T	0.68334	-0.5436	10	0.51188	T	0.08	.	15.7522	0.77994	0.0:0.0:0.863:0.137	.	1120;1120;1180	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	F	1180;1120	ENSP00000286827:S1180F;ENSP00000441570:S1120F	ENSP00000286827:S1180F	S	-	2	0	TIAM1	31435630	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	7.888000	0.87302	2.590000	0.87494	0.563000	0.77884	TCC		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		43	91	0	0	0	0	43	91				
TIAM1	7074	broad.mit.edu	37	21	32589957	32589957	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:32589957G>A	ENST00000286827.3	-	10	2525	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S685F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	685					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCTCGCGGATCTGGACAT	0.542																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2053-2055)TCC>TTC		T-cell lymphoma invasion and metastasis 1							171.0	141.0	151.0					21																	32589957		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589957G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2054C>T	21.37:g.32589957G>A	ENSP00000286827:p.Ser685Phe					TIAM1_uc011adk.1_Missense_Mutation_p.S685F|TIAM1_uc011adl.1_Missense_Mutation_p.S685F|TIAM1_uc002yox.1_Missense_Mutation_p.S293F	p.S685F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			10	2526	-			685					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2054C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958673	0.92726	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.54071	0.59;0.59	5.41	5.41	0.78517	.	0.180927	0.51477	D	0.000098	T	0.66867	0.2833	M	0.63843	1.955	0.80722	D	1	P;P;P;P	0.50710	0.937;0.895;0.938;0.895	P;P;P;P	0.55508	0.777;0.603;0.603;0.603	T	0.67585	-0.5633	10	0.59425	D	0.04	.	19.3868	0.94560	0.0:0.0:1.0:0.0	.	685;685;526;685	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	F	685;526;685	ENSP00000286827:S685F;ENSP00000441570:S685F	ENSP00000286827:S685F	S	-	2	0	TIAM1	31511828	1.000000	0.71417	0.944000	0.38274	0.943000	0.58893	6.343000	0.72986	2.803000	0.96430	0.655000	0.94253	TCC		0.542	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		42	75	0	0	0	0	42	75				
IFNGR2	3460	broad.mit.edu	37	21	34787221	34787221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:34787221C>T	ENST00000290219.6	+	2	748	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.Q53*|IFNGR2_ENST00000405436.1_5'UTR	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	34	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GCCCGCTCCTCAGCACCCGAA	0.527																																						uc002yrp.3		NA																	0					0						c.(100-102)CAG>TAG		interferon gamma receptor 2 precursor	Interferon gamma-1b(DB00033)						58.0	57.0	57.0					21																	34787221		2203	4300	6503	SO:0001587	stop_gained	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34787221C>T		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.100C>T	21.37:g.34787221C>T	ENSP00000290219:p.Gln34*					IFNGR2_uc002yrq.3_Nonsense_Mutation_p.Q53*|IFNGR2_uc010gma.2_5'UTR|IFNGR2_uc002yrr.3_5'UTR	p.Q34*	NM_005534	NP_005525	P38484	INGR2_HUMAN			2	748	+			34			Extracellular (Potential).|Fibronectin type-III 1.		Q9BTL5	Nonsense_Mutation	SNP	ENST00000290219.6	37	c.100C>T	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486153	0.12641	.	.	ENSG00000159128	ENST00000290219;ENST00000381995	.	.	.	5.24	-0.0744	0.13731	.	2.598250	0.01193	N	0.007368	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.2225	8.895	0.35458	0.274:0.3256:0.4004:0.0	.	.	.	.	X	34;53	.	ENSP00000290219:Q34X	Q	+	1	0	IFNGR2	33709091	0.001000	0.12720	0.002000	0.10522	0.016000	0.09150	-0.098000	0.11024	-0.190000	0.10465	0.655000	0.94253	CAG		0.527	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			15	16	0	0	0	0	15	16				
UMODL1	89766	broad.mit.edu	37	21	43508453	43508453	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43508453C>G	ENST00000408910.2	+	5	653	c.653C>G	c.(652-654)tCa>tGa	p.S218*	UMODL1_ENST00000400427.1_Nonsense_Mutation_p.S146*|UMODL1_ENST00000400424.2_Nonsense_Mutation_p.S146*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.S218*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	218					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CACCTGCACTCAGCCCCTGGG	0.642																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(652-654)TCA>TGA		uromodulin-like 1 isoform 1 precursor							55.0	60.0	58.0					21																	43508453		2122	4241	6363	SO:0001587	stop_gained	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43508453C>G		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.653C>G	21.37:g.43508453C>G	ENSP00000386147:p.Ser218*					UMODL1_uc002zad.1_Nonsense_Mutation_p.S146*|UMODL1_uc002zae.1_Nonsense_Mutation_p.S146*|UMODL1_uc002zag.1_Nonsense_Mutation_p.S218*|UMODL1_uc010gow.1_Nonsense_Mutation_p.S10*|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Nonsense_Mutation_p.S10*	p.S218*	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			5	653	+			218			Extracellular (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	c.653C>G	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673562	0.47781	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	.	.	.	4.11	4.11	0.48088	.	0.586362	0.13199	N	0.406097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.4071	12.5865	0.56421	0.0:1.0:0.0:0.0	.	.	.	.	X	146;146;218;218;64;64	.	ENSP00000369829:S64X	S	+	2	0	UMODL1	42381522	0.609000	0.26975	0.680000	0.29994	0.059000	0.15707	2.399000	0.44495	2.209000	0.71365	0.563000	0.77884	TCA		0.642	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			21	7	0	0	0	0	21	7				
UBASH3A	53347	broad.mit.edu	37	21	43852254	43852254	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:43852254G>A	ENST00000319294.6	+	9	1244	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	UBASH3A_ENST00000291535.6_Missense_Mutation_p.E367K|UBASH3A_ENST00000398367.1_Missense_Mutation_p.E367K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	405	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCGCCACGGGGAGAGAGTGGA	0.567																																						uc002zbe.2		NA																	0				ovary(3)	3						c.(1213-1215)GAG>AAG		ubiquitin associated and SH3 domain containing,							169.0	111.0	131.0					21																	43852254		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43852254G>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1213G>A	21.37:g.43852254G>A	ENSP00000317327:p.Glu405Lys					UBASH3A_uc002zbf.2_Missense_Mutation_p.E367K|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.E367K	p.E405K	NM_018961	NP_061834	P57075	UBS3A_HUMAN			9	1249	+			405			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1213G>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758395	0.89843	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.75367	1.22;1.22;-0.93	4.96	4.96	0.65561	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.64402	D	0.000003	D	0.87220	0.6123	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.984;0.984;0.996	D	0.89357	0.3665	10	0.87932	D	0	-33.532	13.7139	0.62685	0.0:0.0:1.0:0.0	.	367;367;405	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	K	367;405;367	ENSP00000291535:E367K;ENSP00000317327:E405K;ENSP00000381408:E367K	ENSP00000291535:E367K	E	+	1	0	UBASH3A	42725323	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.169000	0.64984	2.302000	0.77476	0.655000	0.94253	GAG		0.567	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		5	7	0	0	0	0	5	7				
FAM207A	85395	broad.mit.edu	37	21	46387037	46387037	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr21:46387037C>A	ENST00000291634.6	+	4	489	c.441C>A	c.(439-441)ctC>ctA	p.L147L	FAM207A_ENST00000397826.3_Silent_p.L132L|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	147																	TGCACCCTCTCAGGGATGCCC	0.677																																						uc002zgl.2		NA																	0					0						c.(439-441)CTC>CTA		hypothetical protein LOC85395							22.0	26.0	25.0					21																	46387037		2200	4300	6500	SO:0001819	synonymous_variant	85395							g.chr21:46387037C>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.441C>A	21.37:g.46387037C>A						C21orf70_uc002zgm.2_Silent_p.L132L	p.L147L	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN		Colorectal(79;0.248)	4	459	+			147						Silent	SNP	ENST00000291634.6	37	c.441C>A	CCDS13718.1																																																																																				0.677	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		10	29	1	0	0.00136819	0.00140491	10	29				
RGL4	266747	broad.mit.edu	37	22	24034855	24034855	+	Splice_Site	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:24034855G>A	ENST00000290691.5	+	3	1543		c.e3-1		AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Splice_Site|GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TCCTTTTCCAGATCCTGCTCC	0.547																																						uc002zxn.2		NA																	0				ovary(1)	1						c.e3-1		ral guanine nucleotide dissociation							41.0	43.0	42.0					22																	24034855		2203	4295	6498	SO:0001630	splice_region_variant	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034855G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.374-1G>A	22.37:g.24034855G>A						LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Splice_Site_p.D125_splice|RGL4_uc002zxp.1_Splice_Site|RGL4_uc002zxq.2_Splice_Site	p.D125_splice	NM_153615	NP_705843	Q8IZJ4	RGDSR_HUMAN			3	1544	+								Q495L8	Splice_Site	SNP	ENST00000290691.5	37	c.374_splice	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	.	2.115	-0.402783	0.04865	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	.	.	.	1.98	0.887	0.19200	.	.	.	.	.	.	.	.	.	.	.	0.21499	N	0.999667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5639	0.17160	0.0:0.0:0.6741:0.3259	.	.	.	.	.	-1	.	.	.	+	.	.	RGL4	22364855	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	1.291000	0.33330	0.386000	0.24997	-0.399000	0.06403	.		0.547	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615	Intron	20	35	0	0	0	0	20	35				
PIWIL3	440822	broad.mit.edu	37	22	25150055	25150055	+	Silent	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:25150055T>G	ENST00000332271.5	-	8	1319	c.903A>C	c.(901-903)acA>acC	p.T301T	PIWIL3_ENST00000533313.1_Silent_p.T192T|PIWIL3_ENST00000527701.1_Silent_p.T192T|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	301	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTGGGCAGATGTTCTCTTTA	0.388																																						uc003abd.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(901-903)ACA>ACC		piwi-like 3							135.0	134.0	134.0					22																	25150055		2203	4300	6503	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25150055T>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.903A>C	22.37:g.25150055T>G						PIWIL3_uc011ajx.1_Silent_p.T192T|PIWIL3_uc011ajy.1_Silent_p.T192T|PIWIL3_uc010gut.1_Silent_p.T301T	p.T301T	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			8	1320	-			301			PAZ.			Silent	SNP	ENST00000332271.5	37	c.903A>C	CCDS33623.1																																																																																				0.388	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		36	73	0	0	0	0	36	73				
CRYBA4	1413	broad.mit.edu	37	22	27026412	27026412	+	Silent	SNP	G	G	A	rs563771386		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:27026412G>A	ENST00000354760.3	+	6	587	c.552G>A	c.(550-552)ccG>ccA	p.P184P	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	184	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CTCATGCCCCGACCTTCCAGG	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		18542	0.0		0.0	False		,,,				2504	0.001					uc003acz.3		NA																	0					0						c.(550-552)CCG>CCA		crystallin, beta A4							54.0	48.0	50.0					22																	27026412		2203	4300	6503	SO:0001819	synonymous_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27026412G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.552G>A	22.37:g.27026412G>A							p.P184P	NM_001886	NP_001877	P53673	CRBA4_HUMAN			6	587	+			184			Beta/gamma crystallin 'Greek key' 4.		Q4VB22|Q6ICE4	Silent	SNP	ENST00000354760.3	37	c.552G>A	CCDS13841.1																																																																																				0.597	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		27	28	0	0	0	0	27	28				
MYH9	4627	broad.mit.edu	37	22	36684376	36684376	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36684376G>A	ENST00000216181.5	-	34	5084	c.4854C>T	c.(4852-4854)gaC>gaT	p.D1618D	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1618					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCCTTCAGGTCCATCTCCA	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4852-4854)GAC>GAT		myosin, heavy polypeptide 9, non-muscle							115.0	93.0	101.0					22																	36684376		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684376G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4854C>T	22.37:g.36684376G>A							p.D1618D	NM_002473	NP_002464	P35579	MYH9_HUMAN			34	5085	-			1618			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.4854C>T	CCDS13927.1																																																																																				0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		17	61	0	0	0	0	17	61				
EIF3D	8664	broad.mit.edu	37	22	36912642	36912642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:36912642C>T	ENST00000216190.8	-	12	1459	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	EIF3D_ENST00000541106.1_Nonsense_Mutation_p.W314*|EIF3D_ENST00000405442.1_Nonsense_Mutation_p.W363*	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CTCCAAGCTTCCACCTGCGGT	0.512																																						uc003apq.2		NA																	0				pancreas(1)	1						c.(1087-1089)TGG>TGA		eukaryotic translation initiation factor 3							271.0	252.0	259.0					22																	36912642		2203	4300	6503	SO:0001587	stop_gained	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36912642C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.1089G>A	22.37:g.36912642C>T	ENSP00000216190:p.Trp363*					EIF3D_uc011amr.1_Nonsense_Mutation_p.W190*|EIF3D_uc003apr.2_Nonsense_Mutation_p.W363*|EIF3D_uc011ams.1_Nonsense_Mutation_p.W266*|EIF3D_uc011amt.1_Nonsense_Mutation_p.W314*	p.W363*	NM_003753	NP_003744	O15371	EIF3D_HUMAN			12	1205	-			363						Nonsense_Mutation	SNP	ENST00000216190.8	37	c.1089G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	42	9.377570	0.99153	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000426531;ENST00000458572	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3699	19.4024	0.94635	0.0:1.0:0.0:0.0	.	.	.	.	X	363;348;314;363;16;50	.	ENSP00000216190:W363X	W	-	3	0	EIF3D	35242588	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.487000	0.81328	2.605000	0.88082	0.555000	0.69702	TGG		0.512	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			95	172	0	0	0	0	95	172				
ELFN2	114794	broad.mit.edu	37	22	37769912	37769912	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:37769912G>C	ENST00000402918.2	-	3	2448	c.1663C>G	c.(1663-1665)Ctc>Gtc	p.L555V	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	555					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCAGCTTGAGAGCATCGATG	0.627																																						uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1663-1665)CTC>GTC		leucine rich repeat containing 62							75.0	71.0	72.0					22																	37769912		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769912G>C	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1663C>G	22.37:g.37769912G>C	ENSP00000385277:p.Leu555Val						p.L555V	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2449	-	Melanoma(58;0.0574)		555			Cytoplasmic (Potential).		Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1663C>G	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524315	0.44866	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.33865	1.39;1.39	4.79	3.78	0.43462	.	0.133943	0.51477	D	0.000093	T	0.57562	0.2062	M	0.73217	2.22	0.54753	D	0.999986	D	0.89917	1.0	D	0.85130	0.997	T	0.61530	-0.7044	10	0.87932	D	0	-36.2838	12.5995	0.56489	0.0805:0.0:0.9195:0.0	.	555	Q5R3F8	PPR29_HUMAN	V	555	ENSP00000300147:L555V;ENSP00000385277:L555V	ENSP00000300147:L555V	L	-	1	0	ELFN2	36099858	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.857000	0.86963	1.002000	0.39104	0.511000	0.50034	CTC		0.627	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		30	28	0	0	0	0	30	28				
XPNPEP3	63929	broad.mit.edu	37	22	41253202	41253202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:41253202C>A	ENST00000357137.4	+	1	101	c.17C>A	c.(16-18)tCa>tAa	p.S6*	ST13_ENST00000216218.3_5'Flank|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Nonsense_Mutation_p.S6*|XPNPEP3_ENST00000414396.1_Nonsense_Mutation_p.S6*	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	6					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGCTGCTCTCAGCCCCCAAG	0.632																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2		NA																	0					0						c.(16-18)TCA>TAA		X-prolyl aminopeptidase (aminopeptidase P) 3,							62.0	50.0	54.0					22																	41253202		2203	4300	6503	SO:0001587	stop_gained	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41253202C>A		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.17C>A	22.37:g.41253202C>A	ENSP00000349658:p.Ser6*					XPNPEP3_uc011aox.1_Nonsense_Mutation_p.S6*|XPNPEP3_uc003azi.2_5'UTR|ST13_uc003aze.2_5'Flank|ST13_uc011aow.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA	p.S6*	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			1	109	+			6					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Nonsense_Mutation	SNP	ENST00000357137.4	37	c.17C>A	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245220	0.95272	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137	.	.	.	5.31	0.812	0.18744	.	0.455489	0.24737	N	0.036016	.	.	.	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-0.9926	5.7826	0.18314	0.0:0.6051:0.1451:0.2498	.	.	.	.	X	6	.	ENSP00000349658:S6X	S	+	2	0	XPNPEP3	39583148	0.000000	0.05858	0.045000	0.18777	0.992000	0.81027	0.295000	0.19065	0.814000	0.34374	0.563000	0.77884	TCA		0.632	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		8	4	1	0	0.000442599	0.000458092	8	4				
TNFRSF13C	115650	broad.mit.edu	37	22	42322147	42322147	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:42322147G>T	ENST00000291232.3	-	2	369	c.325C>A	c.(325-327)Cgc>Agc	p.R109S	MIR378I_ENST00000582688.1_RNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	109					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						GACGCGCCGCGAAGCCGCCGC	0.731																																						uc003bbl.2		NA																	0					0						c.(325-327)CGC>AGC		BAFF receptor							11.0	14.0	13.0					22																	42322147		1942	3984	5926	SO:0001583	missense	115650					integral to membrane	receptor activity	g.chr22:42322147G>T	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.325C>A	22.37:g.42322147G>T	ENSP00000291232:p.Arg109Ser					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Missense_Mutation_p.R110S	p.R109S	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN			2	369	-			109			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000291232.3	37	c.325C>A	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	6.837	0.523546	0.13066	.	.	ENSG00000159958	ENST00000291232	T	0.33216	1.42	1.81	-0.675	0.11364	.	1.686560	0.04202	N	0.330228	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.20955	0.032;0.032	T	0.22695	-1.0209	10	0.16420	T	0.52	.	7.4309	0.27126	0.0:0.5869:0.4131:0.0	.	109;109	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	S	109	ENSP00000291232:R109S	ENSP00000291232:R109S	R	-	1	0	TNFRSF13C	40652093	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.293000	0.02770	-0.088000	0.12506	0.313000	0.20887	CGC		0.731	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			10	12	1	0	6.4e-05	6.68e-05	10	12				
MPPED1	758	broad.mit.edu	37	22	43831044	43831044	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:43831044C>G	ENST00000417669.2	+	3	759	c.315C>G	c.(313-315)atC>atG	p.I105M	MPPED1_ENST00000443721.1_Missense_Mutation_p.I105M|MPPED1_ENST00000538182.1_Missense_Mutation_p.I138M|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.I105M|MPPED1_ENST00000414469.2_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	105							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGACCCCATCCAGATGCCGT	0.642																																						uc011apv.1		NA																	0					0						c.(313-315)ATC>ATG		metallophosphoesterase domain containing 1							101.0	115.0	110.0					22																	43831044		2123	4223	6346	SO:0001583	missense	758						hydrolase activity	g.chr22:43831044C>G	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.315C>G	22.37:g.43831044C>G	ENSP00000388137:p.Ile105Met					MPPED1_uc011apw.1_Translation_Start_Site|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.I105M|MPPED1_uc011apz.1_Missense_Mutation_p.I138M	p.I105M	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			3	538	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	105					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.315C>G	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216957	0.39201	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000542779;ENST00000538182	T;T;T;T;T	0.50813	0.88;0.73;0.88;0.88;0.88	4.81	2.6	0.31112	Metallophosphoesterase domain (1);	0.287583	0.35936	N	0.002887	T	0.38639	0.1048	L	0.29908	0.895	0.80722	D	1	P;B	0.51449	0.945;0.135	P;B	0.48425	0.577;0.088	T	0.12192	-1.0557	10	0.40728	T	0.16	-41.8406	8.0118	0.30357	0.0:0.7153:0.1324:0.1523	.	138;105	B7Z2S9;O15442	.;MPPD1_HUMAN	M	105;105;105;83;105;138	ENSP00000388137:I105M;ENSP00000335568:I105M;ENSP00000400686:I105M;ENSP00000444532:I105M;ENSP00000438335:I138M	ENSP00000335568:I105M	I	+	3	3	MPPED1	42160988	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.294000	0.33365	1.111000	0.41721	0.561000	0.74099	ATC		0.642	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		49	36	0	0	0	0	49	36				
PANX2	56666	broad.mit.edu	37	22	50616191	50616191	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr22:50616191C>G	ENST00000395842.2	+	2	1050	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	PANX2_ENST00000159647.5_Missense_Mutation_p.F350L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	350					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCATGTTCTGCAACGAGA	0.587																																						uc003bjn.3		NA																	0				breast(1)	1						c.(1048-1050)TTC>TTG		pannexin 2 isoform 1							62.0	53.0	56.0					22																	50616191		2202	4300	6502	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50616191C>G		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1050C>G	22.37:g.50616191C>G	ENSP00000379183:p.Phe350Leu					PANX2_uc003bjp.3_Missense_Mutation_p.F216L|PANX2_uc003bjo.3_Missense_Mutation_p.F350L	p.F350L	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	1050	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	350			Cytoplasmic (Potential).		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.1050C>G	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255120	0.59321	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.43294	0.95;0.95	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.64404	1.975	0.50171	D	0.999854	D;D	0.56746	0.971;0.977	P;D	0.64687	0.79;0.928	T	0.55579	-0.8119	10	0.56958	D	0.05	-21.5522	5.5615	0.17146	0.0:0.7259:0.0:0.2741	.	350;350	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	L	350;350;50	ENSP00000159647:F350L;ENSP00000379183:F350L	ENSP00000159647:F350L	F	+	3	2	PANX2	48958318	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.572000	0.53849	1.907000	0.55213	0.491000	0.48974	TTC		0.587	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		30	16	0	0	0	0	30	16				
CRELD1	78987	broad.mit.edu	37	3	9984547	9984547	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:9984547T>C	ENST00000383811.3	+	7	1383	c.784T>C	c.(784-786)Tgc>Cgc	p.C262R	CRELD1_ENST00000397170.3_Missense_Mutation_p.C262R|CRELD1_ENST00000489674.1_3'UTR|CRELD1_ENST00000452070.1_Missense_Mutation_p.C262R|CRELD1_ENST00000326434.5_Missense_Mutation_p.C262R	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	262					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGACCAATTCTGCGTGAACAC	0.542																																						uc003bug.2		NA																	0				ovary(1)	1						c.(784-786)TGC>CGC		cysteine-rich with EGF-like domains 1 isoform 3							113.0	96.0	102.0					3																	9984547		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9984547T>C	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.784T>C	3.37:g.9984547T>C	ENSP00000373322:p.Cys262Arg					CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.C262R|CRELD1_uc003buh.2_Missense_Mutation_p.C262R|CRELD1_uc003bui.2_Missense_Mutation_p.C262R|CRELD1_uc003buj.2_RNA	p.C262R	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			8	902	+			262			Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.784T>C	CCDS2593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.212810|3.212810	0.58452|0.58452	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434|ENST00000435417	D;D;D;D|.	0.99445|.	-5.91;-5.91;-5.91;-5.91|.	4.74|4.74	4.74|4.74	0.60224|0.60224	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87684|0.87684	0.6239|0.6239	H|H	0.97874|0.97874	4.095|4.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.996|.	D|D	0.91300|0.91300	0.5066|0.5066	9|5	.|.	.|.	.|.	.|.	12.1916|12.1916	0.54275|0.54275	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	262;262|.	Q96HD1;Q96HD1-2|.	CREL1_HUMAN;.|.	R|P	262|24	ENSP00000380355:C262R;ENSP00000373322:C262R;ENSP00000393643:C262R;ENSP00000321856:C262R|.	.|.	C|L	+|+	1|2	0|0	CRELD1|CRELD1	9959547|9959547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.332000|0.332000	0.28634|0.28634	7.852000|7.852000	0.86927|0.86927	1.764000|1.764000	0.52075|0.52075	0.402000|0.402000	0.26972|0.26972	TGC|CTG		0.542	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		32	47	0	0	0	0	32	47				
IRAK2	3656	broad.mit.edu	37	3	10264363	10264363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:10264363C>T	ENST00000256458.4	+	9	1147	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAAACTTGCTCACCCAATGGC	0.473																																						uc003bve.1		NA																	0				lung(5)|breast(3)	8						c.(1057-1059)CAC>TAC		interleukin-1 receptor-associated kinase 2							186.0	176.0	179.0					3																	10264363		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10264363C>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1057C>T	3.37:g.10264363C>T	ENSP00000256458:p.His353Tyr						p.H353Y	NM_001570	NP_001561	O43187	IRAK2_HUMAN			9	1133	+			353			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.1057C>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825847	0.71143	.	.	ENSG00000134070	ENST00000256458	T	0.34072	1.38	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000053	T	0.61565	0.2357	M	0.79805	2.47	0.46901	D	0.999242	D	0.89917	1.0	D	0.87578	0.998	T	0.63475	-0.6629	10	0.46703	T	0.11	-20.5325	14.4178	0.67163	0.0:1.0:0.0:0.0	.	353	O43187	IRAK2_HUMAN	Y	353	ENSP00000256458:H353Y	ENSP00000256458:H353Y	H	+	1	0	IRAK2	10239363	0.997000	0.39634	0.966000	0.40874	0.859000	0.49053	4.301000	0.59086	2.457000	0.83068	0.655000	0.94253	CAC		0.473	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			68	111	0	0	0	0	68	111				
TSEN2	80746	broad.mit.edu	37	3	12545233	12545233	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:12545233G>A	ENST00000284995.6	+	5	1168	c.781G>A	c.(781-783)Gag>Aag	p.E261K	TSEN2_ENST00000454502.2_Missense_Mutation_p.E202K|TSEN2_ENST00000402228.3_Missense_Mutation_p.E261K|TSEN2_ENST00000314571.7_Missense_Mutation_p.E261K|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000415684.1_Missense_Mutation_p.E261K|TSEN2_ENST00000444864.1_Missense_Mutation_p.E261K|TSEN2_ENST00000383797.5_Missense_Mutation_p.E261K	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	261					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CGTGCTGGTCGAGGAAGCGGA	0.567																																						uc003bxc.2		NA																	0				central_nervous_system(1)	1						c.(781-783)GAG>AAG		tRNA-intron nuclease 2 isoform 1							44.0	42.0	43.0					3																	12545233		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12545233G>A	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.781G>A	3.37:g.12545233G>A	ENSP00000284995:p.Glu261Lys					TSEN2_uc003bwy.2_Missense_Mutation_p.E261K|TSEN2_uc003bwz.2_Missense_Mutation_p.E202K|TSEN2_uc003bxa.2_Missense_Mutation_p.E261K|TSEN2_uc011auq.1_Missense_Mutation_p.E261K|TSEN2_uc003bxb.2_Missense_Mutation_p.E261K|TSEN2_uc011aur.1_Missense_Mutation_p.E170K	p.E261K	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN			5	1168	+			261					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.781G>A	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704586	0.48412	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.58210	0.38;0.45;0.48;0.35;0.42;0.42;0.43;0.45	5.33	4.41	0.53225	.	0.223950	0.39020	N	0.001494	T	0.60483	0.2272	M	0.73962	2.25	0.21220	N	0.999752	D;D;D;D	0.62365	0.989;0.991;0.989;0.974	P;P;P;P	0.50405	0.64;0.636;0.64;0.636	T	0.58278	-0.7664	10	0.48119	T	0.1	-18.1242	12.8083	0.57626	0.0:0.1795:0.8205:0.0	.	261;261;261;202	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	K	261;261;202;261;261;261;261;234;261	ENSP00000406238:E261K;ENSP00000323188:E261K;ENSP00000392029:E202K;ENSP00000373307:E261K;ENSP00000385976:E261K;ENSP00000284995:E261K;ENSP00000407974:E261K;ENSP00000416510:E261K	ENSP00000284995:E261K	E	+	1	0	TSEN2	12520233	1.000000	0.71417	0.704000	0.30370	0.011000	0.07611	2.288000	0.43514	2.491000	0.84063	0.655000	0.94253	GAG		0.567	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		14	28	0	0	0	0	14	28				
NR1D2	9975	broad.mit.edu	37	3	23996052	23996052	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:23996052C>G	ENST00000312521.4	+	2	360	c.41C>G	c.(40-42)tCt>tGt	p.S14C	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	14	Modulating.|Poly-Ser.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TATATCAGTTCTTCCAGCTCA	0.398																																						uc003ccs.2		NA																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(40-42)TCT>TGT		nuclear receptor subfamily 1, group D, member 2							172.0	175.0	174.0					3																	23996052		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:23996052C>G	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.41C>G	3.37:g.23996052C>G	ENSP00000310006:p.Ser14Cys					NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	p.S14C	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			2	360	+			14			Poly-Ser.		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.41C>G	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691982	0.88735	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.95377	-3.69	5.8	5.8	0.92144	.	0.424911	0.28109	N	0.016570	D	0.97380	0.9143	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97667	1.0164	10	0.87932	D	0	.	20.042	0.97594	0.0:1.0:0.0:0.0	.	14	Q14995	NR1D2_HUMAN	C	14	ENSP00000310006:S14C	ENSP00000310006:S14C	S	+	2	0	NR1D2	23971056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.451000	0.73481	2.741000	0.93983	0.561000	0.74099	TCT		0.398	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			57	94	0	0	0	0	57	94				
NEK10	152110	broad.mit.edu	37	3	27244013	27244013	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:27244013T>G	ENST00000429845.2	-	25	2488	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	NEK10_ENST00000295720.6_Missense_Mutation_p.K21T|NEK10_ENST00000383771.4_Missense_Mutation_p.K21T|NEK10_ENST00000357467.2_Missense_Mutation_p.K106T|NEK10_ENST00000383770.3_Missense_Mutation_p.K21T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	709	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACATCAGCCTTCTCCCCATA	0.478																																						uc010hfk.2		NA																	0				ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(61-63)AAG>ACG		RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;							85.0	73.0	77.0					3																	27244013		2203	4300	6503	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27244013T>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2126A>C	3.37:g.27244013T>G	ENSP00000395849:p.Lys709Thr					NEK10_uc003cds.1_Missense_Mutation_p.K106T|NEK10_uc010hfj.2_Missense_Mutation_p.K21T	p.K21T			Q6ZWH5	NEK10_HUMAN			3	291	-			709			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.62A>C		.	.	.	.	.	.	.	.	.	.	T	22.9	4.346682	0.82022	.	.	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.55052	0.54;0.54;0.54;0.83	5.72	5.72	0.89469	.	.	.	.	.	T	0.73505	0.3595	.	.	.	0.35659	D	0.812356	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.998;0.998;0.978	T	0.82259	-0.0546	8	0.72032	D	0.01	.	15.6743	0.77303	0.0:0.0:0.0:1.0	.	21;21;106	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	T	21;21;21;106	ENSP00000295720:K21T;ENSP00000373281:K21T;ENSP00000373280:K21T;ENSP00000350059:K106T	ENSP00000295720:K21T	K	-	2	0	NEK10	27219017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.601000	0.67606	2.184000	0.69523	0.482000	0.46254	AAG		0.478	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		27	35	0	0	0	0	27	35				
ZNF860	344787	broad.mit.edu	37	3	32031248	32031248	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32031248G>C	ENST00000360311.4	+	2	1226	c.677G>C	c.(676-678)aGa>aCa	p.R226T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	226					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)|lung(4)|ovary(1)	8						GTACACATAAGAGAAAAATCT	0.308																																						uc011axg.1		NA																	0				ovary(1)	1						c.(676-678)AGA>ACA		zinc finger protein 860							54.0	42.0	45.0					3																	32031248		692	1590	2282	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031248G>C	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.677G>C	3.37:g.32031248G>C	ENSP00000373274:p.Arg226Thr						p.R226T	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1226	+			226					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.677G>C	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	9.276	1.046802	0.19748	.	.	ENSG00000197385	ENST00000360311	T	0.28069	1.63	0.345	-0.691	0.11305	.	.	.	.	.	T	0.42017	0.1184	M	0.64676	1.99	0.21802	N	0.999534	P	0.48350	0.909	P	0.60789	0.879	T	0.27872	-1.0061	8	.	.	.	.	4.5418	0.12061	0.3194:0.0:0.6806:0.0	.	226	A6NHJ4	ZN860_HUMAN	T	226	ENSP00000373274:R226T	.	R	+	2	0	ZNF860	32006252	0.183000	0.23186	0.000000	0.03702	0.000000	0.00434	1.453000	0.35167	-0.519000	0.06444	-0.515000	0.04445	AGA		0.308	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			29	83	0	0	0	0	29	83				
CNOT10	25904	broad.mit.edu	37	3	32776347	32776347	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:32776347C>A	ENST00000328834.5	+	12	1709	c.1393C>A	c.(1393-1395)Ctc>Atc	p.L465I	CNOT10_ENST00000331889.6_Missense_Mutation_p.L465I|CNOT10_ENST00000454516.2_Missense_Mutation_p.L525I|CNOT10_ENST00000538368.1_Missense_Mutation_p.L237I|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	465					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGCCATATGTCTCAGAAATGC	0.408																																						uc003cfc.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1393-1395)CTC>ATC		CCR4-NOT transcription complex, subunit 10							168.0	173.0	172.0					3																	32776347		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32776347C>A	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1393C>A	3.37:g.32776347C>A	ENSP00000330060:p.Leu465Ile					CNOT10_uc011axi.1_Missense_Mutation_p.L237I|CNOT10_uc003cfd.1_Missense_Mutation_p.L464I|CNOT10_uc003cfe.1_Missense_Mutation_p.L465I|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.L525I|CNOT10_uc010hfw.1_Missense_Mutation_p.L160I	p.L465I	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN			12	1648	+			465					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1393C>A	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884233	0.91814	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T;T	0.65178	0.53;0.47;-0.14;0.39	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.87578	0.998;0.997;0.996;0.994	T	0.77341	-0.2624	10	0.46703	T	0.11	-11.4934	19.9549	0.97216	0.0:1.0:0.0:0.0	.	525;465;464;465	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	I	465;465;237;525;12	ENSP00000329376:L465I;ENSP00000330060:L465I;ENSP00000442552:L237I;ENSP00000399862:L525I	ENSP00000330060:L465I	L	+	1	0	CNOT10	32751351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.657000	0.67996	2.725000	0.93324	0.655000	0.94253	CTC		0.408	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		93	167	1	0	1.67e-42	1.87e-42	93	167				
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:36884182G>A	ENST00000429976.2	-	17	5326	c.5079C>T	c.(5077-5079)ttC>ttT	p.F1693F	TRANK1_ENST00000301807.6_Silent_p.F1143F|TRANK1_ENST00000463984.1_5'UTR|TRANK1_ENST00000428977.2_Silent_p.F1143F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1693							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTCTTAACGAACATGCTAT	0.463																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3427-3429)TTC>TTT		lupus brain antigen 1							79.0	79.0	79.0					3																	36884182		1936	4124	6060	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36884182G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5079C>T	3.37:g.36884182G>A							p.F1143F	NM_014831	NP_055646	O15050	TRNK1_HUMAN			8	3731	-			1693					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.3429C>T	CCDS46789.2																																																																																				0.463	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		10	28	0	0	0	0	10	28				
TMEM42	131616	broad.mit.edu	37	3	44903512	44903512	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:44903512G>C	ENST00000302392.4	+	1	152	c.96G>C	c.(94-96)gcG>gcC	p.A32A	MIR564_ENST00000385049.1_RNA	NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	32						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		AGGCGGGTGCGATGCGGCGCC	0.741																																						uc003cnz.2		NA																	0					0						c.(94-96)GCG>GCC		transmembrane protein 42							5.0	8.0	7.0					3																	44903512		2105	4161	6266	SO:0001819	synonymous_variant	131616					integral to membrane		g.chr3:44903512G>C	AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.96G>C	3.37:g.44903512G>C							p.A32A	NM_144638	NP_653239	Q69YG0	TMM42_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)	1	105	+			32					Q8WUQ6	Silent	SNP	ENST00000302392.4	37	c.96G>C	CCDS2722.1																																																																																				0.741	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256750.2	NM_144638		4	3	0	0	0	0	4	3				
PLXNB1	5364	broad.mit.edu	37	3	48451107	48451107	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48451107G>C	ENST00000358536.4	-	33	6080	c.5811C>G	c.(5809-5811)ttC>ttG	p.F1937L	PLXNB1_ENST00000448774.2_Missense_Mutation_p.F548L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.F1754L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.F1937L|PLXNB1_ENST00000358459.4_Missense_Mutation_p.F1754L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1937					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAATCACCTGGAACAGGTCAT	0.607																																						uc003csw.2		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5809-5811)TTC>TTG		plexin B1 precursor							56.0	55.0	55.0					3																	48451107		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48451107G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5811C>G	3.37:g.48451107G>C	ENSP00000351338:p.Phe1937Leu					PLXNB1_uc003cst.2_Missense_Mutation_p.F387L|PLXNB1_uc003csu.2_Missense_Mutation_p.F1754L|PLXNB1_uc003csx.2_Missense_Mutation_p.F1937L	p.F1937L	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	33	6081	-			1937			Cytoplasmic (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.5811C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.457980	0.43634	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.16	3.28	0.37604	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.73372	2.23	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.02031	-1.1226	10	0.48119	T	0.1	.	10.7394	0.46145	0.0951:0.0:0.9049:0.0	.	1937;1754	O43157;O43157-2	PLXB1_HUMAN;.	L	1937;1754;1937;548;1754	ENSP00000296440:F1937L;ENSP00000351242:F1754L;ENSP00000351338:F1937L;ENSP00000389320:F548L;ENSP00000414199:F1754L	ENSP00000296440:F1937L	F	-	3	2	PLXNB1	48426111	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	6.584000	0.74057	0.731000	0.32448	0.306000	0.20318	TTC		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		20	48	0	0	0	0	20	48				
CELSR3	1951	broad.mit.edu	37	3	48699002	48699002	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:48699002C>G	ENST00000164024.4	-	1	1346	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.E356Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	356	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCCGGCCTCGCCGGCGTCC	0.672																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1066-1068)GAG>CAG		cadherin EGF LAG seven-pass G-type receptor 3							26.0	32.0	30.0					3																	48699002		2186	4270	6456	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699002C>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1066G>C	3.37:g.48699002C>G	ENSP00000164024:p.Glu356Gln					CELSR3_uc003cuf.1_Missense_Mutation_p.E426Q	p.E356Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1347	-			356			Extracellular (Potential).|Cadherin 1.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1066G>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598398	0.87055	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.50548	0.74;0.74	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60130	0.2245	L	0.31120	0.905	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.973	T	0.60193	-0.7311	9	0.52906	T	0.07	.	19.4133	0.94685	0.0:1.0:0.0:0.0	.	356;426	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Q	356	ENSP00000164024:E356Q;ENSP00000445694:E356Q	ENSP00000164024:E356Q	E	-	1	0	CELSR3	48674006	1.000000	0.71417	0.917000	0.36280	0.987000	0.75469	7.665000	0.83852	2.700000	0.92200	0.561000	0.74099	GAG		0.672	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		24	45	0	0	0	0	24	45				
USP19	10869	broad.mit.edu	37	3	49152909	49152909	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49152909G>C	ENST00000398888.2	-	11	1865	c.1547C>G	c.(1546-1548)tCc>tGc	p.S516C	USP19_ENST00000434032.2_Missense_Mutation_p.S617C|USP19_ENST00000453664.1_Missense_Mutation_p.S607C|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398896.1_Missense_Mutation_p.S324C|USP19_ENST00000398892.3_Missense_Mutation_p.S556C|USP19_ENST00000398898.2_Missense_Mutation_p.S556C|USP19_ENST00000417901.1_Missense_Mutation_p.S619C	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	516	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGAGTGTTGGACAGAGACTG	0.547																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(1546-1548)TCC>TGC		ubiquitin thioesterase 19							76.0	83.0	81.0					3																	49152909		2133	4277	6410	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152909G>C	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1547C>G	3.37:g.49152909G>C	ENSP00000381863:p.Ser516Cys					USP19_uc003cwa.2_Missense_Mutation_p.S324C|USP19_uc003cvz.3_Missense_Mutation_p.S619C|USP19_uc011bcg.1_Missense_Mutation_p.S607C|USP19_uc003cwb.2_Missense_Mutation_p.S602C|USP19_uc003cwc.1_Missense_Mutation_p.S274C|USP19_uc011bch.1_Missense_Mutation_p.S617C|USP19_uc011bci.1_Missense_Mutation_p.S604C	p.S516C	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1708	-			516			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1547C>G	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273623	0.80580	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.81	5.81	0.92471	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.73430	2.235	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	0.994;1.0;0.999;0.999;0.998;0.997;0.992	T	0.60806	-0.7190	10	0.87932	D	0	-23.0178	19.6677	0.95900	0.0:0.0:1.0:0.0	.	682;617;607;516;556;602;324	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	C	324;556;619;607;556;516;617	ENSP00000381870:S324C;ENSP00000381872:S556C;ENSP00000395260:S619C;ENSP00000400090:S607C;ENSP00000381867:S556C;ENSP00000381863:S516C;ENSP00000401197:S617C	ENSP00000381863:S516C	S	-	2	0	USP19	49127913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.707000	0.74654	2.738000	0.93877	0.655000	0.94253	TCC		0.547	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		49	56	0	0	0	0	49	56				
USP19	10869	broad.mit.edu	37	3	49155409	49155409	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49155409G>A	ENST00000398888.2	-	3	587	c.269C>T	c.(268-270)tCc>tTc	p.S90F	USP19_ENST00000434032.2_Missense_Mutation_p.S90F|USP19_ENST00000453664.1_Missense_Mutation_p.S90F|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398896.1_5'UTR|USP19_ENST00000398892.3_Missense_Mutation_p.S43F|USP19_ENST00000398898.2_Missense_Mutation_p.S43F|USP19_ENST00000417901.1_Missense_Mutation_p.S90F	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	90					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTGAGGAGTGGATGCTGACCC	0.567																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(268-270)TCC>TTC		ubiquitin thioesterase 19							108.0	108.0	108.0					3																	49155409		1979	4160	6139	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49155409G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.269C>T	3.37:g.49155409G>A	ENSP00000381863:p.Ser90Phe					USP19_uc003cwa.2_5'UTR|USP19_uc003cvz.3_Missense_Mutation_p.S90F|USP19_uc011bcg.1_Missense_Mutation_p.S90F|USP19_uc003cwb.2_Missense_Mutation_p.S90F|USP19_uc003cwc.1_5'Flank|USP19_uc011bch.1_Missense_Mutation_p.S90F|USP19_uc011bci.1_Missense_Mutation_p.S90F	p.S90F	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	3	430	-			90			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.269C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	5.793	0.330699	0.10956	.	.	ENSG00000172046	ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298	T;T;T;T;T;T;T	0.32753	2.01;2.2;2.19;2.01;2.17;2.2;1.44	4.19	2.21	0.28008	.	1.150430	0.06312	N	0.702915	T	0.13114	0.0318	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.0;0.002	T	0.20806	-1.0264	10	0.62326	D	0.03	-0.3563	5.4441	0.16524	0.118:0.1976:0.6844:0.0	.	153;90;90;90;90	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2	.;.;.;UBP19_HUMAN;.	F	43;90;90;43;90;90;90;90	ENSP00000381872:S43F;ENSP00000395260:S90F;ENSP00000400090:S90F;ENSP00000381867:S43F;ENSP00000381863:S90F;ENSP00000401197:S90F;ENSP00000303503:S90F	ENSP00000303503:S90F	S	-	2	0	USP19	49130413	0.015000	0.18098	0.001000	0.08648	0.072000	0.16883	1.860000	0.39428	0.584000	0.29591	0.650000	0.86243	TCC		0.567	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		63	43	0	0	0	0	63	43				
CCDC36	339834	broad.mit.edu	37	3	49278740	49278740	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49278740C>T	ENST00000438782.1	+	4	549	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CCDC36_ENST00000452691.2_Missense_Mutation_p.P105S|CCDC36_ENST00000451634.2_Missense_Mutation_p.P95S|CCDC36_ENST00000296449.5_Missense_Mutation_p.P105S|CCDC36_ENST00000366429.2_Missense_Mutation_p.P105S			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	105										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTATTTCCTCCTCCTTTGTC	0.383																																						uc003cwk.2		NA																	0				ovary(1)|kidney(1)	2						c.(313-315)CCT>TCT		coiled-coil domain containing 36							73.0	77.0	76.0					3																	49278740		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49278740C>T	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.313C>T	3.37:g.49278740C>T	ENSP00000391788:p.Pro105Ser					CCDC36_uc003cwl.3_Missense_Mutation_p.P105S|CCDC36_uc011bck.1_Missense_Mutation_p.P105S|CCDC36_uc010hkt.2_RNA	p.P105S	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	6	700	+			105					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.313C>T	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300954	0.40694	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000366429;ENST00000451634	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	4.75	3.87	0.44632	.	0.376195	0.22991	N	0.053196	T	0.08447	0.0210	N	0.14661	0.345	0.23249	N	0.998049	B;P	0.35982	0.255;0.531	B;B	0.38500	0.145;0.275	T	0.18085	-1.0348	10	0.51188	T	0.08	-2.6467	6.0663	0.19866	0.1864:0.7173:0.0:0.0962	.	105;105	Q8IYA8-3;Q8IYA8	.;CCD36_HUMAN	S	105;105;105;105;95	ENSP00000296449:P105S;ENSP00000391788:P105S;ENSP00000407837:P105S;ENSP00000403700:P105S;ENSP00000397641:P95S	ENSP00000296449:P105S	P	+	1	0	CCDC36	49253744	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.020000	0.30027	1.346000	0.45694	0.467000	0.42956	CCT		0.383	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		15	33	0	0	0	0	15	33				
MST1R	4486	broad.mit.edu	37	3	49929191	49929191	+	Splice_Site	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:49929191G>A	ENST00000296474.3	-	15	3379	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	MST1R_ENST00000344206.4_Splice_Site_p.R1069C	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCCCACTTACGACTTAGTGAC	0.527																																						uc003cxy.3		NA																	0				ovary(5)|lung(1)	6						c.(3352-3354)CGC>TGC		macrophage stimulating 1 receptor precursor							210.0	183.0	192.0					3																	49929191		2203	4300	6503	SO:0001630	splice_region_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49929191G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3352+1C>T	3.37:g.49929191G>A						MST1R_uc011bdc.1_5'UTR	p.R1118C	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	15	3616	-			1118			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3352C>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.995626	0.74703	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	D;D	0.83075	-1.68;-1.68	5.63	5.63	0.86233	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.183501	0.56097	D	0.000033	D	0.83390	0.5244	L	0.48362	1.52	0.80722	D	1	D	0.60575	0.988	P	0.49477	0.612	T	0.82410	-0.0471	9	.	.	.	-9.5144	17.9244	0.88979	0.0:0.0:1.0:0.0	.	1118	Q04912	RON_HUMAN	C	1118;1069	ENSP00000296474:R1118C;ENSP00000341325:R1069C	.	R	-	1	0	MST1R	49904195	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.465000	0.73538	2.670000	0.90874	0.638000	0.83543	CGC		0.527	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1		Missense_Mutation	49	86	0	0	0	0	49	86				
PDZRN3	23024	broad.mit.edu	37	3	73651507	73651507	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:73651507C>G	ENST00000263666.4	-	3	1030	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	PDZRN3_ENST00000308537.4_Missense_Mutation_p.E306Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	306	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCACATACCTCAATAATCCTG	0.478																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(916-918)GAG>CAG		PDZ domain containing ring finger 3							219.0	205.0	210.0					3																	73651507		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73651507C>G	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.916G>C	3.37:g.73651507C>G	ENSP00000263666:p.Glu306Gln						p.E306Q	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	3	1012	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	306			PDZ 1.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.916G>C	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376459	0.24857	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.57273	0.74;0.41	5.05	5.05	0.67936	PDZ/DHR/GLGF (4);	0.181064	0.47093	N	0.000250	T	0.39627	0.1085	N	0.25201	0.72	0.80722	D	1	B	0.21688	0.059	B	0.29353	0.101	T	0.29088	-1.0023	10	0.02654	T	1	.	18.4028	0.90522	0.0:1.0:0.0:0.0	.	306	Q9UPQ7	PZRN3_HUMAN	Q	306	ENSP00000263666:E306Q;ENSP00000308831:E306Q	ENSP00000263666:E306Q	E	-	1	0	PDZRN3	73734197	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.794000	0.75135	2.310000	0.77875	0.563000	0.77884	GAG		0.478	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		79	133	0	0	0	0	79	133				
ROBO1	6091	broad.mit.edu	37	3	78737857	78737857	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:78737857G>T	ENST00000464233.1	-	9	1224	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K	ROBO1_ENST00000436010.2_Missense_Mutation_p.Q332K|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q335K|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q335K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	371	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCTTCACACTGAAAAGTTACA	0.413																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(1111-1113)CAG>AAG		roundabout 1 isoform a							60.0	57.0	58.0					3																	78737857		1868	4106	5974	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78737857G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1111C>A	3.37:g.78737857G>T	ENSP00000420321:p.Gln371Lys					ROBO1_uc003dqb.2_Missense_Mutation_p.Q332K|ROBO1_uc003dqc.2_Missense_Mutation_p.Q335K|ROBO1_uc003dqd.2_Missense_Mutation_p.Q335K|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.Q50K	p.Q371K	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	9	1319	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	371			Extracellular (Potential).|Ig-like C2-type 4.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.1111C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940489	0.73557	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.112189	0.64402	D	0.000005	T	0.62986	0.2473	N	0.04959	-0.14	0.80722	D	1	D;D;D;D;D	0.71674	0.989;0.995;0.998;0.995;0.997	P;D;D;D;D	0.83275	0.895;0.932;0.996;0.932;0.988	T	0.65187	-0.6229	9	.	.	.	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	335;371;335;335;332	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	K	332;335;371;335;335;371	ENSP00000406043:Q332K;ENSP00000420321:Q371K;ENSP00000420637:Q335K;ENSP00000417992:Q335K	.	Q	-	1	0	ROBO1	78820547	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	9.397000	0.97276	2.685000	0.91497	0.650000	0.86243	CAG		0.413	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		7	8	1	0	0.00198382	0.00203384	7	8				
PROS1	5627	broad.mit.edu	37	3	93646189	93646189	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:93646189C>G	ENST00000394236.3	-	2	455	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	47	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTGGTTTCTTCAAGTAAAGAA	0.388																																						uc003drb.3		NA																	0				large_intestine(1)	1	GRCh37	CM991068	PROS1	M		c.(139-141)GAA>CAA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						89.0	86.0	87.0					3																	93646189		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93646189C>G		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.139G>C	3.37:g.93646189C>G	ENSP00000377783:p.Glu47Gln					PROS1_uc010hoo.2_5'UTR|PROS1_uc003dqz.3_5'UTR	p.E47Q	NM_000313	NP_000304	P07225	PROS_HUMAN			2	480	-			47			Gla.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.139G>C	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204909	0.79127	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.99567	-6.18;-6.18	4.53	4.53	0.55603	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.119241	0.56097	D	0.000032	D	0.99750	0.9900	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97061	0.9771	10	0.87932	D	0	.	17.4197	0.87511	0.0:1.0:0.0:0.0	.	47	P07225	PROS_HUMAN	Q	47;79	ENSP00000377783:E47Q;ENSP00000330021:E79Q	ENSP00000330021:E79Q	E	-	1	0	PROS1	95128879	1.000000	0.71417	0.928000	0.36995	0.646000	0.38490	7.004000	0.76317	2.513000	0.84729	0.448000	0.29417	GAA		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		38	53	0	0	0	0	38	53				
EPHA6	285220	broad.mit.edu	37	3	97439174	97439174	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:97439174G>C	ENST00000389672.5	+	15	2892	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	858						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCAGCAAGCGATGCATGGAG	0.463																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2854-2856)GAT>CAT		EPH receptor A6 isoform a							96.0	101.0	100.0					3																	97439174		2093	4255	6348	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97439174G>C	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2854G>C	3.37:g.97439174G>C	ENSP00000374323:p.Asp952His					EPHA6_uc003drt.2_Missense_Mutation_p.D344H|EPHA6_uc010hox.1_RNA	p.D952H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			15	2897	+			857			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.2854G>C	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238466	0.79800	.	.	ENSG00000080224	ENST00000389672	D	0.88896	-2.44	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.97511	0.9185	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	9	0.87932	D	0	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	857	Q9UF33	EPHA6_HUMAN	H	952	ENSP00000374323:D952H	ENSP00000374323:D952H	D	+	1	0	EPHA6	98921864	1.000000	0.71417	0.763000	0.31416	0.765000	0.43378	9.813000	0.99286	2.701000	0.92244	0.563000	0.77884	GAT		0.463	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		38	53	0	0	0	0	38	53				
KIAA1407	57577	broad.mit.edu	37	3	113724488	113724488	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:113724488C>G	ENST00000295878.3	-	10	1881	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E410Q	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	579										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTCAGCTCGAGAATTGTT	0.507																																						uc003eax.2		NA																	0				ovary(2)	2						c.(1735-1737)GAG>CAG		hypothetical protein LOC57577							145.0	144.0	144.0					3																	113724488		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724488C>G	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1735G>C	3.37:g.113724488C>G	ENSP00000295878:p.Glu579Gln					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.E557Q|KIAA1407_uc011bip.1_Missense_Mutation_p.E566Q	p.E579Q	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			10	1882	-			579			Potential.		B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1735G>C	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	8.381	0.837638	0.16891	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.50548	1.31;0.74;0.74	5.49	2.63	0.31362	.	0.673909	0.16089	N	0.230134	T	0.40645	0.1125	M	0.64997	1.995	0.09310	N	0.999995	B;P;B	0.45715	0.351;0.865;0.351	B;B;B	0.42062	0.163;0.374;0.163	T	0.18967	-1.0320	10	0.21540	T	0.41	.	5.8986	0.18953	0.0:0.6183:0.1416:0.2401	.	566;455;579	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	Q	579;410;566	ENSP00000295878:E579Q;ENSP00000446381:E410Q;ENSP00000418099:E566Q	ENSP00000295878:E579Q	E	-	1	0	KIAA1407	115207178	0.314000	0.24563	0.298000	0.25002	0.032000	0.12392	0.610000	0.24253	0.386000	0.24997	0.655000	0.94253	GAG		0.507	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		48	96	0	0	0	0	48	96				
C3orf30	152405	broad.mit.edu	37	3	118865466	118865466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:118865466G>T	ENST00000295622.1	+	1	470	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	144										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488																																						uc003ecb.1		NA																	0				ovary(2)	2						c.(430-432)GAA>TAA		hypothetical protein LOC152405							55.0	51.0	53.0					3																	118865466		2203	4300	6503	SO:0001587	stop_gained	152405							g.chr3:118865466G>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.430G>T	3.37:g.118865466G>T	ENSP00000295622:p.Glu144*					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Nonsense_Mutation_p.E144*	p.E144*	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	470	+			144					A1L4B7	Nonsense_Mutation	SNP	ENST00000295622.1	37	c.430G>T	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.32|16.32	3.090146|3.090146	0.55968|0.55968	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	.|.	.|.	.|.	3.26|3.26	0.379|0.379	0.16213|0.16213	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.07990|.	T|.	0.79|.	0.1416|0.1416	6.877|6.877	0.24153|0.24153	0.1066:0.3714:0.522:0.0|0.1066:0.3714:0.522:0.0	.|.	.|.	.|.	.|.	X|L	144|107	.|.	ENSP00000295622:E144X|.	E|X	+|+	1|2	0|2	C3orf30|C3orf30	120348156|120348156	0.039000|0.039000	0.19947|0.19947	0.002000|0.002000	0.10522|0.10522	0.016000|0.016000	0.09150|0.09150	0.471000|0.471000	0.22100|0.22100	0.060000|0.060000	0.16281|0.16281	-0.463000|-0.463000	0.05309|0.05309	GAA|TGA		0.488	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		19	37	1	0	1.45e-14	1.58e-14	19	37				
POLQ	10721	broad.mit.edu	37	3	121258384	121258384	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:121258384G>C	ENST00000264233.5	-	4	655	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	176	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTTGATGGAGAGGTGCTGCC	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(526-528)TCT>TGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							125.0	120.0	122.0					3																	121258384		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121258384G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.527C>G	3.37:g.121258384G>C	ENSP00000264233:p.Ser176Cys						p.S176C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	4	656	-			176			Helicase ATP-binding.		O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.527C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712026	0.89112	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.17054	2.3	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.226700	0.48767	D	0.000179	T	0.58206	0.2106	H	0.97240	3.965	0.58432	D	0.999998	P	0.51240	0.943	P	0.59889	0.865	T	0.72124	-0.4385	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	176	O75417	DPOLQ_HUMAN	C	176;311	ENSP00000264233:S176C	ENSP00000264233:S176C	S	-	2	0	POLQ	122741074	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.394000	0.73223	2.884000	0.98904	0.655000	0.94253	TCT		0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		22	48	0	0	0	0	22	48				
CHCHD6	84303	broad.mit.edu	37	3	126451938	126451938	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:126451938C>G	ENST00000290913.3	+	4	377	c.284C>G	c.(283-285)gCt>gGt	p.A95G	CHCHD6_ENST00000508789.1_Missense_Mutation_p.A95G	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	95			A -> S (in dbSNP:rs2272487).		cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						CAGGAGCATGCTGCTATCCAG	0.552																																						uc003ejf.1		NA																	0					0						c.(283-285)GCT>GGT		coiled-coil-helix-coiled-coil-helix domain							81.0	70.0	74.0					3																	126451938		2203	4300	6503	SO:0001583	missense	84303							g.chr3:126451938C>G	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.284C>G	3.37:g.126451938C>G	ENSP00000290913:p.Ala95Gly					CHCHD6_uc010hsj.1_Missense_Mutation_p.A95G	p.A95G	NM_032343	NP_115719	Q9BRQ6	CHCH6_HUMAN			4	322	+			95					D6R9U0|D6RIB4|H8Y0Y7	Missense_Mutation	SNP	ENST00000290913.3	37	c.284C>G	CCDS3041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.005|8.005	0.756197|0.756197	0.15846|0.15846	.|.	.|.	ENSG00000159685|ENSG00000159685	ENST00000290913;ENST00000508789|ENST00000513253	T;T|.	0.51817|.	0.69;0.69|.	4.48|4.48	2.66|2.66	0.31614|0.31614	.|.	0.252628|.	0.38217|.	N|.	0.001762|.	T|T	0.42268|0.42268	0.1195|0.1195	L|L	0.57536|0.57536	1.79|1.79	0.28028|0.28028	N|N	0.934253|0.934253	D;D|.	0.67145|.	0.996;0.98|.	D;P|.	0.65773|.	0.938;0.893|.	T|T	0.32981|0.32981	-0.9886|-0.9886	10|5	0.51188|.	T|.	0.08|.	-4.0401|-4.0401	6.148|6.148	0.20296|0.20296	0.0:0.7636:0.0:0.2364|0.0:0.7636:0.0:0.2364	.|.	95;95|.	D6R9U0;Q9BRQ6|.	.;CHCH6_HUMAN|.	G|V	95|29	ENSP00000290913:A95G;ENSP00000422912:A95G|.	ENSP00000290913:A95G|.	A|L	+|+	2|1	0|2	CHCHD6|CHCHD6	127934628|127934628	0.223000|0.223000	0.23663|0.23663	0.371000|0.371000	0.25978|0.25978	0.031000|0.031000	0.12232|0.12232	0.392000|0.392000	0.20801|0.20801	0.505000|0.505000	0.28104|0.28104	-0.218000|-0.218000	0.12543|0.12543	GCT|CTG		0.552	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		8	57	0	0	0	0	8	57				
COPG1	22820	broad.mit.edu	37	3	128979529	128979529	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:128979529C>G	ENST00000314797.6	+	12	1111	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	336					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GTCACAGATTCAAACCGCAGC	0.552																																						uc003els.2		NA																	0				ovary(3)|breast(1)	4						c.(1006-1008)TCA>TGA		coatomer protein complex, subunit gamma 1							84.0	76.0	79.0					3																	128979529		2203	4300	6503	SO:0001587	stop_gained	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128979529C>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1007C>G	3.37:g.128979529C>G	ENSP00000325002:p.Ser336*					COPG_uc010htb.2_Nonsense_Mutation_p.S242*	p.S336*	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			12	1107	+			336			HEAT 3.		A8K6M8|B3KMF6|Q54AC4	Nonsense_Mutation	SNP	ENST00000314797.6	37	c.1007C>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	39	7.833499	0.98516	.	.	ENSG00000181789	ENST00000314797	.	.	.	5.75	5.75	0.90469	.	0.082588	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.2267	17.4884	0.87694	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000325002:S336X	S	+	2	0	COPG	130462219	1.000000	0.71417	0.962000	0.40283	0.942000	0.58702	7.618000	0.83043	2.736000	0.93811	0.306000	0.20318	TCA		0.552	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		33	43	0	0	0	0	33	43				
COL6A6	131873	broad.mit.edu	37	3	130293197	130293197	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:130293197G>A	ENST00000358511.6	+	7	3406	c.3375G>A	c.(3373-3375)ctG>ctA	p.L1125L	COL6A6_ENST00000453409.2_Silent_p.L1125L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1125	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGAAGCCCTGAGACACAGAG	0.567																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3373-3375)CTG>CTA		collagen type VI alpha 6 precursor							78.0	87.0	84.0					3																	130293197		2018	4180	6198	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130293197G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3375G>A	3.37:g.130293197G>A							p.L1125L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3406	+			1125			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3375G>A	CCDS46911.1																																																																																				0.567	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		27	52	0	0	0	0	27	52				
ACAD11	84129	broad.mit.edu	37	3	132294631	132294631	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132294631C>G	ENST00000264990.6	-	17	2957	c.1986G>C	c.(1984-1986)aaG>aaC	p.K662N	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.K187N	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	662					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATACAACTTCTTCTTGAAAG	0.438																																						uc003eov.3		NA																	0				ovary(1)	1						c.(1984-1986)AAG>AAC		putative acyl-CoA dehydrogenase							97.0	92.0	93.0					3																	132294631		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132294631C>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1986G>C	3.37:g.132294631C>G	ENSP00000264990:p.Lys662Asn						p.K662N	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			17	2366	-			662					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1986G>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498719	0.44455	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.96651	-4.08;-4.08	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98400	0.9468	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98962	1.0798	9	0.87932	D	0	.	11.7927	0.52078	0.0:0.9185:0.0:0.0815	.	662	Q709F0	ACD11_HUMAN	N	662;187	ENSP00000264990:K662N;ENSP00000446263:K187N	ENSP00000264990:K662N	K	-	3	2	ACAD11	133777321	1.000000	0.71417	0.993000	0.49108	0.079000	0.17450	1.635000	0.37134	2.615000	0.88500	0.591000	0.81541	AAG		0.438	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		23	54	0	0	0	0	23	54				
UBA5	79876	broad.mit.edu	37	3	132394720	132394720	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132394720C>G	ENST00000356232.4	+	11	2156	c.1084C>G	c.(1084-1086)Cca>Gca	p.P362A	UBA5_ENST00000493720.2_Missense_Mutation_p.P362A|UBA5_ENST00000473651.1_Intron|UBA5_ENST00000264991.4_Missense_Mutation_p.P306A|UBA5_ENST00000494238.2_Missense_Mutation_p.P306A	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	362					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGTCCAGTTCCAGACTTACC	0.308																																						uc003epa.3		NA																	0				kidney(1)	1						c.(1084-1086)CCA>GCA		ubiquitin-activating enzyme 5 isoform 1							33.0	38.0	36.0					3																	132394720		2203	4293	6496	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132394720C>G	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.1084C>G	3.37:g.132394720C>G	ENSP00000348565:p.Pro362Ala					NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.P306A|UBA5_uc010htt.2_Intron|UBA5_uc003epb.3_Missense_Mutation_p.P306A|UBA5_uc003epc.2_5'Flank	p.P362A	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN			11	1326	+			362					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.1084C>G	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153481	0.57259	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000494238	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.44	5.44	0.79542	Molybdenum cofactor biosynthesis, MoeB (1);	0.048292	0.85682	D	0.000000	T	0.28665	0.0710	L	0.49350	1.555	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19095	-1.0316	10	0.06494	T	0.89	-11.8784	18.8725	0.92320	0.0:1.0:0.0:0.0	.	362	Q9GZZ9	UBA5_HUMAN	A	306;362;362;306	ENSP00000264991:P306A;ENSP00000348565:P362A;ENSP00000417879:P362A;ENSP00000418807:P306A	ENSP00000264991:P306A	P	+	1	0	UBA5	133877410	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.950000	0.75977	2.539000	0.85634	0.561000	0.74099	CCA		0.308	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		24	33	0	0	0	0	24	33				
NPHP3	27031	broad.mit.edu	37	3	132423059	132423059	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:132423059C>G	ENST00000337331.5	-	9	1593	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	NPHP3_ENST00000476742.1_5'Flank|NPHP3_ENST00000326682.8_Missense_Mutation_p.E503Q	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	503					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATCCCAACTCATGGGCTGAA	0.363																																						uc003epe.1		NA																	0				ovary(1)	1						c.(1507-1509)GAG>CAG		nephrocystin 3							162.0	163.0	163.0					3																	132423059		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423059C>G	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1507G>C	3.37:g.132423059C>G	ENSP00000338766:p.Glu503Gln					NPHP3_uc003epf.1_Missense_Mutation_p.E258Q	p.E503Q	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			9	1584	-			503			TPR 1.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.1507G>C	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180521	0.38511	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.92149	-2.98;-2.87	5.56	4.67	0.58626	.	0.325497	0.36854	N	0.002374	D	0.87962	0.6310	L	0.37630	1.12	0.80722	D	1	B	0.20459	0.045	B	0.13407	0.009	D	0.83473	0.0060	10	0.29301	T	0.29	-13.8431	16.5319	0.84362	0.0:0.8691:0.1309:0.0	.	503	Q7Z494	NPHP3_HUMAN	Q	503	ENSP00000319909:E503Q;ENSP00000338766:E503Q	ENSP00000319909:E503Q	E	-	1	0	NPHP3	133905749	0.999000	0.42202	0.656000	0.29637	0.942000	0.58702	3.407000	0.52644	1.423000	0.47198	0.655000	0.94253	GAG		0.363	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		95	106	0	0	0	0	95	106				
KY	339855	broad.mit.edu	37	3	134327552	134327552	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:134327552C>G	ENST00000423778.2	-	10	1090	c.1029G>C	c.(1027-1029)aaG>aaC	p.K343N	KY_ENST00000503669.1_Intron|KY_ENST00000508956.1_Missense_Mutation_p.K322N	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	343					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAATTCACTCTTGTGATACA	0.507																																						uc010hty.2		NA																	0				ovary(2)	2						c.(1027-1029)AAG>AAC		kyphoscoliosis peptidase							130.0	134.0	133.0					3																	134327552		2060	4214	6274	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134327552C>G	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1029G>C	3.37:g.134327552C>G	ENSP00000397598:p.Lys343Asn					KY_uc011blw.1_Intron|KY_uc011blx.1_Missense_Mutation_p.K322N|KY_uc003eqr.1_Missense_Mutation_p.K109N	p.K343N	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			10	1091	-			343					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1029G>C	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771344	0.31320	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000310263	.	.	.	5.28	5.28	0.74379	.	0.158910	0.39759	N	0.001270	T	0.44008	0.1273	L	0.27053	0.805	0.80722	D	1	B;B	0.28880	0.06;0.226	B;B	0.29524	0.039;0.103	T	0.32134	-0.9918	9	0.18276	T	0.48	-8.1354	14.4969	0.67694	0.0:0.7381:0.2619:0.0	.	322;343	Q8NBH2-3;Q8NBH2-4	.;.	N	322;343;343	.	ENSP00000309520:K343N	K	-	3	2	KY	135810242	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.446000	0.21694	2.482000	0.83794	0.462000	0.41574	AAG		0.507	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		56	75	0	0	0	0	56	75				
PLS1	5357	broad.mit.edu	37	3	142394998	142394998	+	Splice_Site	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:142394998G>C	ENST00000337777.3	+	5	577		c.e5-1		RN7SKP25_ENST00000362449.1_RNA|PLS1_ENST00000497002.1_Splice_Site|PLS1_ENST00000457734.2_Splice_Site	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCTCCTTTCAGAGGAAGAAAA	0.353																																						uc010huv.2		NA																	0				ovary(1)	1						c.e5-1		plastin 1							80.0	81.0	81.0					3																	142394998		2203	4300	6503	SO:0001630	splice_region_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142394998G>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.365-1G>C	3.37:g.142394998G>C						PLS1_uc003euz.2_Splice_Site_p.E122_splice|PLS1_uc003eva.2_Splice_Site_p.E122_splice	p.E122_splice	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			5	524	+								A8K2Q1|D3DNG3|Q8NEG6	Splice_Site	SNP	ENST00000337777.3	37	c.365_splice	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893061	0.91889	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLS1	143877688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.812000	0.96745	0.557000	0.71058	.		0.353	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	Intron	20	50	0	0	0	0	20	50				
P2RY13	53829	broad.mit.edu	37	3	151046746	151046746	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:151046746G>C	ENST00000325602.5	-	2	117	c.98C>G	c.(97-99)tCt>tGt	p.S33C	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	33					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GCACCGCTCAGATCTGTTGAA	0.458																																						uc003eyv.2		NA																	0				ovary(3)|lung(1)	4						c.(97-99)TCT>TGT		purinergic receptor P2Y, G-protein coupled, 13							117.0	112.0	113.0					3																	151046746		2203	4300	6503	SO:0001583	missense	53829					integral to membrane|plasma membrane		g.chr3:151046746G>C	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.98C>G	3.37:g.151046746G>C	ENSP00000320376:p.Ser33Cys					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.S33C	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	119	-			33			Extracellular (Potential).		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	ENST00000325602.5	37	c.98C>G	CCDS3158.2	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058695	0.55325	.	.	ENSG00000181631	ENST00000325602	T	0.54675	0.56	5.77	5.77	0.91146	.	0.053680	0.85682	D	0.000000	T	0.49762	0.1576	N	0.08118	0	0.46478	D	0.999068	D	0.71674	0.998	P	0.58873	0.847	T	0.58869	-0.7560	10	0.72032	D	0.01	-22.7377	15.1126	0.72372	0.0692:0.0:0.9308:0.0	.	33	Q9BPV8	P2Y13_HUMAN	C	33	ENSP00000320376:S33C	ENSP00000320376:S33C	S	-	2	0	P2RY13	152529436	1.000000	0.71417	0.979000	0.43373	0.261000	0.26267	4.715000	0.61909	2.720000	0.93068	0.557000	0.71058	TCT		0.458	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		62	80	0	0	0	0	62	80				
BCHE	590	broad.mit.edu	37	3	165548094	165548094	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:165548094G>A	ENST00000264381.3	-	2	894	c.728C>T	c.(727-729)tCa>tTa	p.S243L	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	243					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	GGTGAACAATGAATGGCTTCC	0.438																																						uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(727-729)TCA>TTA		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						92.0	96.0	95.0					3																	165548094		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548094G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.728C>T	3.37:g.165548094G>A	ENSP00000264381:p.Ser243Leu					BCHE_uc003fen.3_Intron	p.S243L	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	888	-			243					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.728C>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	2.665	-0.278940	0.05642	.	.	ENSG00000114200	ENST00000264381	D	0.95518	-3.73	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.295167	0.36200	N	0.002727	D	0.93510	0.7929	L	0.55213	1.73	0.20764	N	0.999858	B	0.10296	0.003	B	0.15052	0.012	D	0.86612	0.1873	10	0.59425	D	0.04	.	14.2695	0.66143	0.0:0.1486:0.8513:0.0	.	243	P06276	CHLE_HUMAN	L	243	ENSP00000264381:S243L	ENSP00000264381:S243L	S	-	2	0	BCHE	167030788	0.001000	0.12720	0.056000	0.19401	0.010000	0.07245	1.104000	0.31074	2.652000	0.90054	0.655000	0.94253	TCA		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			35	131	0	0	0	0	35	131				
LRRIQ4	344657	broad.mit.edu	37	3	169540507	169540507	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:169540507G>C	ENST00000340806.6	+	1	798	c.798G>C	c.(796-798)ggG>ggC	p.G266G		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	266										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGCTGAGCGGGAACCGCCTGG	0.612																																						uc003fgb.2		NA																	0					0						c.(796-798)GGG>GGC		leucine-rich repeats and IQ motif containing 4							33.0	37.0	36.0					3																	169540507		2049	4182	6231	SO:0001819	synonymous_variant	344657							g.chr3:169540507G>C		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.798G>C	3.37:g.169540507G>C							p.G266G	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	798	+			266			LRR 11.			Silent	SNP	ENST00000340806.6	37	c.798G>C	CCDS46951.1																																																																																				0.612	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		26	19	0	0	0	0	26	19				
FNDC3B	64778	broad.mit.edu	37	3	172096154	172096154	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:172096154G>A	ENST00000336824.4	+	24	3202	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E1035K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E1035K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1035	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGCAGCAAGCGAGGCTGGAGA	0.488																																						uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(3103-3105)GAG>AAG		fibronectin type III domain containing 3B							84.0	83.0	83.0					3																	172096154		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096154G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3103G>A	3.37:g.172096154G>A	ENSP00000338523:p.Glu1035Lys					FNDC3B_uc003fhz.3_Missense_Mutation_p.E1035K	p.E1035K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3275	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1035			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3103G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179791	0.94846	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56776	0.44;0.44;0.44	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.407546	0.30667	N	0.009132	T	0.53417	0.1795	L	0.42487	1.325	0.80722	D	1	P	0.44659	0.84	P	0.46253	0.509	T	0.47368	-0.9123	10	0.27082	T	0.32	-5.32	18.8518	0.92235	0.0:0.0:1.0:0.0	.	1035	Q53EP0	FND3B_HUMAN	K	1035	ENSP00000411242:E1035K;ENSP00000338523:E1035K;ENSP00000389094:E1035K	ENSP00000338523:E1035K	E	+	1	0	FNDC3B	173578848	1.000000	0.71417	0.913000	0.36048	0.968000	0.65278	5.327000	0.65881	2.450000	0.82876	0.655000	0.94253	GAG		0.488	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		50	42	0	0	0	0	50	42				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			46	44	0	0	0	0	46	44				
BCL6	604	broad.mit.edu	37	3	187447411	187447411	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:187447411G>C	ENST00000406870.2	-	5	1148	c.782C>G	c.(781-783)cCc>cGc	p.P261R	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P261R|BCL6_ENST00000232014.4_Missense_Mutation_p.P261R	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	261					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTTTCCTTGGGTGAATAGAT	0.572			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(781-783)CCC>CGC		B-cell lymphoma 6 protein isoform 1							71.0	72.0	72.0					3																	187447411		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447411G>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.782C>G	3.37:g.187447411G>C	ENSP00000384371:p.Pro261Arg					BCL6_uc011bsf.1_Missense_Mutation_p.P261R|BCL6_uc010hza.2_Missense_Mutation_p.P159R|BCL6_uc003frq.1_Missense_Mutation_p.P261R	p.P261R	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1239	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		261					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.782C>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583301	0.46006	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08370	3.11;3.11;3.1	5.61	5.61	0.85477	.	0.098661	0.64402	D	0.000001	T	0.10208	0.0250	L	0.43152	1.355	0.44142	D	0.996931	B;P	0.46277	0.267;0.875	B;B	0.41440	0.079;0.357	T	0.01162	-1.1432	10	0.62326	D	0.03	.	13.9084	0.63850	0.0:0.0:0.848:0.152	.	261;261	B8PSA7;P41182	.;BCL6_HUMAN	R	261	ENSP00000384371:P261R;ENSP00000232014:P261R;ENSP00000413122:P261R	ENSP00000232014:P261R	P	-	2	0	BCL6	188930105	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.116000	0.77119	2.815000	0.96918	0.561000	0.74099	CCC		0.572	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		28	62	0	0	0	0	28	62				
PPP1R2	5504	broad.mit.edu	37	3	195256617	195256617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr3:195256617C>A	ENST00000328432.3	-	2	568	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	70					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GTGCTTGGTTCATCTATTTTC	0.373																																						uc003fup.2		NA																	0				urinary_tract(1)	1						c.(208-210)GAA>TAA		protein phosphatase 1, regulatory subunit 2							146.0	122.0	130.0					3																	195256617		2203	4300	6503	SO:0001587	stop_gained	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195256617C>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.208G>T	3.37:g.195256617C>A	ENSP00000328178:p.Glu70*					PPP1R2_uc003fuq.3_Nonsense_Mutation_p.E70*	p.E70*	NM_006241	NP_006232	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	2	584	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		70						Nonsense_Mutation	SNP	ENST00000328432.3	37	c.208G>T	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	C	41	8.868024	0.98984	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.1336	0.89610	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000328178:E70X	E	-	1	0	PPP1R2	196737906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.183000	0.77697	2.880000	0.98712	0.650000	0.86243	GAA		0.373	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		60	52	1	0	2.73e-28	3.05e-28	60	52				
FAM193A	8603	broad.mit.edu	37	4	2696731	2696731	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:2696731G>T	ENST00000324666.5	+	15	2629	c.2278G>T	c.(2278-2280)Gat>Tat	p.D760Y	FAM193A_ENST00000382839.3_Missense_Mutation_p.D760Y|FAM193A_ENST00000502458.1_Missense_Mutation_p.D782Y|FAM193A_ENST00000545951.1_Missense_Mutation_p.D760Y|FAM193A_ENST00000505311.1_Missense_Mutation_p.D760Y	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	760										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACAGCAGGATGATGGGGACGA	0.597																																						uc010icl.2		NA																	0				ovary(3)	3						c.(2278-2280)GAT>TAT		hypothetical protein LOC8603							81.0	59.0	67.0					4																	2696731		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2696731G>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2278G>T	4.37:g.2696731G>T	ENSP00000324587:p.Asp760Tyr					FAM193A_uc010ick.2_Missense_Mutation_p.D960Y|FAM193A_uc003gfd.2_Missense_Mutation_p.D760Y|FAM193A_uc011bvm.1_Missense_Mutation_p.D782Y|FAM193A_uc011bvn.1_Missense_Mutation_p.D760Y|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.D614Y	p.D760Y	NM_003704	NP_003695	P78312	F193A_HUMAN			15	2629	+			760					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2278G>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833735	0.71258	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.56	5.56	0.83823	.	0.094831	0.64402	D	0.000001	T	0.73961	0.3654	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.65874	0.939;0.939;0.939;0.939;0.939	T	0.75596	-0.3263	10	0.72032	D	0.01	-14.0025	18.5241	0.90965	0.0:0.0:1.0:0.0	.	760;782;760;782;760	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	Y	760;760;760;782;614	ENSP00000372290:D760Y;ENSP00000324587:D760Y;ENSP00000443617:D760Y;ENSP00000427505:D782Y;ENSP00000427260:D614Y	ENSP00000324587:D760Y	D	+	1	0	FAM193A	2666529	1.000000	0.71417	0.073000	0.20177	0.421000	0.31385	9.662000	0.98603	2.609000	0.88269	0.655000	0.94253	GAT		0.597	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		4	5	1	0	2.56e-06	2.69e-06	4	5				
LPHN3	23284	broad.mit.edu	37	4	62935975	62935975	+	Silent	SNP	C	C	T	rs368297982		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:62935975C>T	ENST00000514591.1	+	25	4088	c.3759C>T	c.(3757-3759)acC>acT	p.T1253T	RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000506746.1_Silent_p.T1355T|LPHN3_ENST00000507625.1_Silent_p.T1312T|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.T1364T|LPHN3_ENST00000545650.1_Silent_p.T1253T|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000514996.1_Silent_p.T1287T|LPHN3_ENST00000508946.1_Silent_p.T1296T|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514157.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1231					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACGAGACCGCCCTAGAGA	0.458																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3757-3759)ACC>ACT		latrophilin 3 precursor		C		0,1384		0,0,692	97.0	83.0	88.0		3759	3.2	1.0	4		88	1,3181		0,1,1590	no	coding-synonymous	LPHN3	NM_015236.4		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		1253/1470	62935975	1,4565	692	1591	2283	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62935975C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3759C>T	4.37:g.62935975C>T						LPHN3_uc003hcq.3_3'UTR|LPHN3_uc003hct.2_Silent_p.T637T	p.T1253T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			23	3932	+			1231			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.3759C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	1.615	-0.522952	0.04141	0.0	3.14E-4	ENSG00000150471	ENST00000502815	.	.	.	5.13	3.18	0.36537	.	.	.	.	.	T	0.46946	0.1419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38693	-0.9649	4	.	.	.	.	3.6825	0.08316	0.1488:0.5506:0.1291:0.1715	.	.	.	.	C	702	.	.	R	+	1	0	LPHN3	62618570	0.964000	0.33143	1.000000	0.80357	0.862000	0.49288	0.122000	0.15687	1.152000	0.42452	-0.463000	0.05309	CGC		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	5	0	0	0	0	5	5				
EPHA5	2044	broad.mit.edu	37	4	66467879	66467879	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:66467879G>C	ENST00000273854.3	-	3	990	c.390C>G	c.(388-390)ctC>ctG	p.L130L	EPHA5_ENST00000432638.2_Silent_p.L130L|EPHA5_ENST00000511294.1_Silent_p.L130L|EPHA5_ENST00000354839.4_Silent_p.L130L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	130	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGTAAATTTGAGTTCTATGA	0.428										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(388-390)CTC>CTG		ephrin receptor EphA5 isoform a precursor							85.0	90.0	88.0					4																	66467879		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467879G>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.390C>G	4.37:g.66467879G>C		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.L61L|EPHA5_uc003hcz.2_Silent_p.L130L|EPHA5_uc011cah.1_Silent_p.L130L|EPHA5_uc011cai.1_Silent_p.L130L|EPHA5_uc003hda.2_Silent_p.L130L	p.L130L	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	583	-			130			Extracellular (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.390C>G	CCDS3513.1																																																																																				0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		52	29	0	0	0	0	52	29				
PRR27	401137	broad.mit.edu	37	4	71024438	71024438	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:71024438G>C	ENST00000344526.5	+	3	658	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.E157Q	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		157	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGCAGCTGAGCCTGCTGC	0.642																																						uc003hfa.3		NA																	0					0						c.(469-471)GAG>CAG		hypothetical protein LOC401137 precursor							27.0	29.0	28.0					4																	71024438		2202	4297	6499	SO:0001583	missense	401137					extracellular region		g.chr4:71024438G>C																												ENST00000344526.5:c.469G>C	4.37:g.71024438G>C	ENSP00000343172:p.Glu157Gln					C4orf40_uc003hfb.3_Missense_Mutation_p.E157Q	p.E157Q	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN			4	542	+			157			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.469G>C	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	6.987	0.552287	0.13374	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.32515	1.45;1.45	3.02	-0.393	0.12438	.	.	.	.	.	T	0.11793	0.0287	N	0.14661	0.345	0.09310	N	1	P	0.40107	0.703	B	0.31337	0.128	T	0.14643	-1.0465	9	0.33141	T	0.24	-0.2022	2.6864	0.05108	0.1177:0.178:0.5228:0.1815	.	157	Q6MZM9	CD040_HUMAN	Q	157	ENSP00000426249:E157Q;ENSP00000343172:E157Q	ENSP00000343172:E157Q	E	+	1	0	C4orf40	71059027	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.280000	0.00528	-0.022000	0.13986	-1.197000	0.01672	GAG		0.642	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			43	11	0	0	0	0	43	11				
ADH1C	126	broad.mit.edu	37	4	100261734	100261734	+	RNA	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:100261734C>T	ENST00000510055.1	-	0	872				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTACATACCTCCAAAAATAGC	0.413																																						uc003huu.2		NA																	0					0						c.(961-963)GGA>GAA		class I alcohol dehydrogenase, gamma subunit	Fomepizole(DB01213)|NADH(DB00157)						173.0	177.0	176.0					4																	100261734		2203	4300	6503			126	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261734C>T	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261734C>T							p.G321E	NM_000669	NP_000660	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	9	1047	-			321					Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.962G>A																																																																																					0.413	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		92	72	0	0	0	0	92	72				
NDNF	79625	broad.mit.edu	37	4	121957931	121957931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:121957931G>A	ENST00000379692.4	-	4	1721	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	399					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCCACATTCTGAGACAGAAGA	0.418																																						uc003idq.1		NA																	0					0						c.(1195-1197)CAG>TAG		hypothetical protein LOC79625 precursor							106.0	104.0	104.0					4																	121957931		2203	4300	6503	SO:0001587	stop_gained	79625							g.chr4:121957931G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1195C>T	4.37:g.121957931G>A	ENSP00000369014:p.Gln399*						p.Q399*	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1722	-			399					A8K0Q0|Q6UWE5|Q9H5P7	Nonsense_Mutation	SNP	ENST00000379692.4	37	c.1195C>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	41	8.999124	0.99031	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	5.64	0.86602	.	0.100191	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.7273	19.7145	0.96110	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000369014:Q399X	Q	-	1	0	NDNF	122177381	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.654000	0.90174	0.655000	0.94253	CAG		0.418	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		46	41	0	0	0	0	46	41				
NUDT6	11162	broad.mit.edu	37	4	123814217	123814217	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:123814217G>A	ENST00000304430.5	-	5	750	c.717C>T	c.(715-717)tgC>tgT	p.C239C	FGF2_ENST00000264498.3_3'UTR|NUDT6_ENST00000608639.1_5'Flank|NUDT6_ENST00000339154.2_Silent_p.C70C|NUDT6_ENST00000502270.1_Silent_p.C70C|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	239	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						ATTCTTCCTGGCAAAAATTTA	0.443																																						uc003iew.2		NA																	0					0						c.(715-717)TGC>TGT		nudix-type motif 6 isoform a							123.0	118.0	120.0					4																	123814217		2203	4300	6503	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123814217G>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.717C>T	4.37:g.123814217G>A						FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Silent_p.C70C	p.C239C	NM_007083	NP_009014	P53370	NUDT6_HUMAN			5	749	-			239			Nudix hydrolase.		A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.717C>T	CCDS43268.1																																																																																				0.443	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		4	81	0	0	0	0	4	81				
GAB1	2549	broad.mit.edu	37	4	144354740	144354740	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:144354740C>T	ENST00000262994.4	+	3	766	c.464C>T	c.(463-465)tCt>tTt	p.S155F	GAB1_ENST00000505913.1_Missense_Mutation_p.S52F|GAB1_ENST00000262995.4_Missense_Mutation_p.S155F	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	155					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GATTCATCCTCTGCTACTCTA	0.483																																						uc003ije.2		NA																	0				breast(2)|lung(1)|skin(1)	4						c.(463-465)TCT>TTT		GRB2-associated binding protein 1 isoform b							168.0	146.0	154.0					4																	144354740		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144354740C>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.464C>T	4.37:g.144354740C>T	ENSP00000262994:p.Ser155Phe					GAB1_uc003ijd.2_Missense_Mutation_p.S155F|GAB1_uc011chq.1_Missense_Mutation_p.S52F	p.S155F	NM_002039	NP_002030	Q13480	GAB1_HUMAN			3	823	+	all_hematologic(180;0.158)		155					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.464C>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395576	0.25205	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000505913;ENST00000509992	T;T;T;T;T	0.34275	2.59;2.6;1.37;2.16;1.39	5.39	3.66	0.41972	.	0.456335	0.23165	N	0.051188	T	0.24928	0.0605	L	0.44542	1.39	0.22693	N	0.998846	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12889	-1.0530	10	0.35671	T	0.21	-10.1396	3.0039	0.06023	0.2015:0.5195:0.0:0.2789	.	155;155	Q13480;Q13480-2	GAB1_HUMAN;.	F	155;155;155;52;134	ENSP00000262995:S155F;ENSP00000262994:S155F;ENSP00000427435:S155F;ENSP00000424554:S52F;ENSP00000425921:S134F	ENSP00000262994:S155F	S	+	2	0	GAB1	144574190	0.000000	0.05858	0.063000	0.19743	0.255000	0.26057	0.576000	0.23744	1.275000	0.44379	-0.137000	0.14449	TCT		0.483	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		46	28	0	0	0	0	46	28				
ARHGAP10	79658	broad.mit.edu	37	4	148867785	148867785	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:148867785G>A	ENST00000336498.3	+	15	1560	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.E90K	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1204					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AACATGCAATGAGGTGGACCT	0.383																																						uc003ilf.2		NA																	0				skin(2)|pancreas(1)|lung(1)	4						c.(1321-1323)GAG>AAG		Rho GTPase activating protein 10							119.0	115.0	116.0					4																	148867785		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148867785G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1321G>A	4.37:g.148867785G>A	ENSP00000336923:p.Glu441Lys					ARHGAP10_uc003ilg.2_Missense_Mutation_p.E90K|ARHGAP10_uc003ilh.2_Missense_Mutation_p.E22K	p.E441K	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	15	1321	+	all_hematologic(180;0.151)	Renal(17;0.0166)	441			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1321G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982228	0.53827	.	.	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.18657	2.2;2.2	4.93	4.93	0.64822	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.049304	0.85682	D	0.000000	T	0.29321	0.0730	N	0.13003	0.285	0.58432	D	0.999999	D;P;P	0.76494	0.999;0.939;0.673	D;P;B	0.75484	0.986;0.735;0.324	T	0.12630	-1.0540	10	0.20046	T	0.44	.	18.5332	0.91000	0.0:0.0:1.0:0.0	.	22;90;441	Q86T21;E7EUW5;A1A4S6	.;.;RHG10_HUMAN	K	441;90	ENSP00000336923:E441K;ENSP00000406624:E90K	ENSP00000336923:E441K	E	+	1	0	ARHGAP10	149087235	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	8.044000	0.89434	2.441000	0.82636	0.591000	0.81541	GAG		0.383	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		12	5	0	0	0	0	12	5				
MND1	84057	broad.mit.edu	37	4	154315459	154315459	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154315459G>A	ENST00000504860.1	+	4	320	c.277G>A	c.(277-279)Gag>Aag	p.E93K	MND1_ENST00000240488.3_Missense_Mutation_p.E108K					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAAAGCATTGAGAAAGCTAA	0.353																																						uc003ink.1		NA																	0					0						c.(322-324)GAG>AAG		GAJ protein							116.0	112.0	113.0					4																	154315459		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154315459G>A	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.277G>A	4.37:g.154315459G>A	ENSP00000422933:p.Glu93Lys						p.E108K	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN			5	411	+	all_hematologic(180;0.093)		108			Potential.			Missense_Mutation	SNP	ENST00000504860.1	37	c.322G>A		.	.	.	.	.	.	.	.	.	.	G	15.03	2.710881	0.48517	.	.	ENSG00000121211	ENST00000240488;ENST00000508731;ENST00000504860	.	.	.	5.72	4.7	0.59300	.	0.231066	0.51477	D	0.000098	T	0.46983	0.1421	L	0.46741	1.465	0.39972	D	0.974801	B	0.06786	0.001	B	0.16289	0.015	T	0.37244	-0.9714	9	0.19147	T	0.46	-9.7651	10.4756	0.44663	0.1015:0.0:0.8985:0.0	.	108	Q9BWT6	MND1_HUMAN	K	108;93;93	.	ENSP00000240488:E108K	E	+	1	0	MND1	154534909	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.338000	0.59316	2.711000	0.92665	0.655000	0.94253	GAG		0.353	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		14	13	0	0	0	0	14	13				
MND1	84057	broad.mit.edu	37	4	154318395	154318395	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:154318395G>C	ENST00000504860.1	+	5	374	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	MND1_ENST00000240488.3_Missense_Mutation_p.E126Q					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358																																						uc003ink.1		NA																	0					0						c.(376-378)GAG>CAG		GAJ protein							79.0	76.0	77.0					4																	154318395		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154318395G>C	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.331G>C	4.37:g.154318395G>C	ENSP00000422933:p.Glu111Gln						p.E126Q	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN			6	465	+	all_hematologic(180;0.093)		126			Potential.			Missense_Mutation	SNP	ENST00000504860.1	37	c.376G>C		.	.	.	.	.	.	.	.	.	.	G	16.48	3.133998	0.56828	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	L	0.55743	1.74	0.52501	D	0.999959	P	0.50369	0.934	P	0.51701	0.677	T	0.58014	-0.7711	9	0.25751	T	0.34	-21.1049	16.5451	0.84443	0.0:0.0:1.0:0.0	.	126	Q9BWT6	MND1_HUMAN	Q	126;111	.	ENSP00000240488:E126Q	E	+	1	0	MND1	154537845	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.703000	0.61824	2.690000	0.91761	0.555000	0.69702	GAG		0.358	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		6	3	0	0	0	0	6	3				
LRAT	9227	broad.mit.edu	37	4	155665794	155665794	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:155665794G>T	ENST00000336356.3	+	2	569	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	LRAT_ENST00000507827.1_Missense_Mutation_p.A106S	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	106					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGTCAAAGTGGCCAGCATCCG	0.572																																						uc003iom.1		NA																	0				central_nervous_system(1)	1						c.(316-318)GCC>TCC		lecithin retinol acyltransferase	Vitamin A(DB00162)						66.0	67.0	67.0					4																	155665794		2203	4300	6503	SO:0001583	missense	9227				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity	g.chr4:155665794G>T	AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.316G>T	4.37:g.155665794G>T	ENSP00000337224:p.Ala106Ser					uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.A106S	p.A106S	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	643	+	all_hematologic(180;0.215)	Renal(120;0.0458)	106			Cytoplasmic (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.316G>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724162	0.89298	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.25085	1.82;1.82	5.53	5.53	0.82687	NC (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67461	-0.5665	10	0.72032	D	0.01	-10.506	19.4692	0.94956	0.0:0.0:1.0:0.0	.	106	O95237	LRAT_HUMAN	S	106	ENSP00000426761:A106S;ENSP00000337224:A106S	ENSP00000337224:A106S	A	+	1	0	LRAT	155885244	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.951000	0.87819	2.585000	0.87301	0.650000	0.86243	GCC		0.572	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		9	4	1	0	5.49e-09	5.85e-09	9	4				
NAF1	92345	broad.mit.edu	37	4	164050069	164050069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:164050069G>A	ENST00000274054.2	-	8	1658	c.1465C>T	c.(1465-1467)Cat>Tat	p.H489Y	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	489					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTCCAAAATGAGAATTACTA	0.433																																						uc003iqj.2		NA																	0				ovary(2)	2						c.(1465-1467)CAT>TAT		nuclear assembly factor 1 homolog isoform a							22.0	25.0	24.0					4																	164050069		2185	4260	6445	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050069G>A		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1465C>T	4.37:g.164050069G>A	ENSP00000274054:p.His489Tyr					NAF1_uc010iqw.1_Intron	p.H489Y	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1659	-	all_hematologic(180;0.166)	Prostate(90;0.109)	489					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1465C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303687	0.60305	.	.	ENSG00000145414	ENST00000274054	T	0.32753	1.44	3.94	3.94	0.45596	.	0.491092	0.20131	N	0.098595	T	0.34803	0.0910	L	0.29908	0.895	0.28209	N	0.927019	D	0.63880	0.993	D	0.70227	0.968	T	0.07693	-1.0759	10	0.05721	T	0.95	-8.3854	11.8069	0.52161	0.0:0.0:1.0:0.0	.	489	Q96HR8	NAF1_HUMAN	Y	489	ENSP00000274054:H489Y	ENSP00000274054:H489Y	H	-	1	0	NAF1	164269519	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.817000	0.55668	2.491000	0.84063	0.655000	0.94253	CAT		0.433	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		17	12	0	0	0	0	17	12				
NEK1	4750	broad.mit.edu	37	4	170428916	170428916	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:170428916C>G	ENST00000439128.2	-	20	2417	c.1777G>C	c.(1777-1779)Gaa>Caa	p.E593Q	NEK1_ENST00000510533.1_Missense_Mutation_p.E549Q|NEK1_ENST00000511633.1_Missense_Mutation_p.E577Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E621Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E524Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	593					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCACTTCCTTCTTGTCCTTCA	0.358																																						uc003isb.1		NA																	0				lung(3)|ovary(2)|large_intestine(1)	6						c.(1777-1779)GAA>CAA		NIMA-related kinase 1							104.0	96.0	98.0					4																	170428916		1840	4084	5924	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170428916C>G	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1777G>C	4.37:g.170428916C>G	ENSP00000408020:p.Glu593Gln					NEK1_uc003isc.1_Missense_Mutation_p.E549Q|NEK1_uc003isd.1_Missense_Mutation_p.E621Q|NEK1_uc003ise.1_Missense_Mutation_p.E577Q|NEK1_uc003isf.1_Missense_Mutation_p.E524Q	p.E593Q	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	20	2269	-		Prostate(90;0.00601)|Renal(120;0.0183)	593					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.1777G>C	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447700	0.84101	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.72835	-0.67;-0.69;-0.55;-0.68;-0.52	5.53	4.69	0.59074	.	0.315488	0.26792	N	0.022462	T	0.78622	0.4312	M	0.72894	2.215	0.47153	D	0.999334	P;P;P;P;P	0.52463	0.919;0.953;0.953;0.953;0.922	P;P;P;P;P	0.53861	0.65;0.474;0.736;0.474;0.548	T	0.81448	-0.0928	10	0.72032	D	0.01	.	14.0681	0.64844	0.0:0.9271:0.0:0.0729	.	524;577;621;549;593	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	593;577;549;621;524	ENSP00000408020:E593Q;ENSP00000423332:E577Q;ENSP00000427653:E549Q;ENSP00000424757:E621Q;ENSP00000424938:E524Q	ENSP00000408020:E593Q	E	-	1	0	NEK1	170665491	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.022000	0.57203	1.462000	0.47948	0.655000	0.94253	GAA		0.358	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			30	22	0	0	0	0	30	22				
ADAMTS16	170690	broad.mit.edu	37	5	5186271	5186271	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:5186271G>C	ENST00000274181.7	+	5	1008	c.870G>C	c.(868-870)ctG>ctC	p.L290L	ADAMTS16_ENST00000511368.1_Silent_p.L290L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	290	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGAAGAACTGAACGTGGAGA	0.473																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(868-870)CTG>CTC		ADAM metallopeptidase with thrombospondin type 1							119.0	120.0	120.0					5																	5186271		1977	4157	6134	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186271G>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.870G>C	5.37:g.5186271G>C						ADAMTS16_uc003jdk.1_Silent_p.L290L|ADAMTS16_uc003jdj.1_Silent_p.L290L	p.L290L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			5	1008	+			290			Peptidase M12B.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.870G>C	CCDS43299.1																																																																																				0.473	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		38	51	0	0	0	0	38	51				
BASP1	10409	broad.mit.edu	37	5	17275436	17275436	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:17275436G>A	ENST00000322611.3	+	2	371	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	37					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGGGGACCCCGAAGGAGAGTG	0.647																																						uc003jfx.2		NA																	0					0						c.(109-111)CCG>CCA		brain abundant, membrane attached signal protein							25.0	32.0	29.0					5																	17275436		2197	4287	6484	SO:0001819	synonymous_variant	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275436G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.111G>A	5.37:g.17275436G>A							p.P37P	NM_006317	NP_006308	P80723	BASP1_HUMAN			2	290	+			37					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	ENST00000322611.3	37	c.111G>A	CCDS3888.1																																																																																				0.647	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			11	12	0	0	0	0	11	12				
NPR3	4883	broad.mit.edu	37	5	32712159	32712159	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:32712159C>T	ENST00000265074.8	+	1	620	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	NPR3_ENST00000415167.2_Silent_p.L93L|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	93					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGCGGCTTCTGCCGCCGGG	0.677																																						uc003jhv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(277-279)CTG>TTG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						31.0	37.0	35.0					5																	32712159		1956	4146	6102	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712159C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.277C>T	5.37:g.32712159C>T						NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Silent_p.L93L	p.L93L	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	495	+			93			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.277C>T	CCDS56357.1																																																																																				0.677	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		17	41	0	0	0	0	17	41				
ZNF131	7690	broad.mit.edu	37	5	43161724	43161724	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:43161724A>G	ENST00000399534.1	+	5	789	c.745A>G	c.(745-747)Att>Gtt	p.I249V	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.I249V|ZNF131_ENST00000509634.1_Intron|ZNF131_ENST00000505606.2_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	249					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGGTATTGAAATTGTGGAACT	0.403																																						uc011cpw.1		NA																	0					0						c.(745-747)ATT>GTT		zinc finger protein 131							59.0	56.0	57.0					5																	43161724		1935	4140	6075	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43161724A>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.745A>G	5.37:g.43161724A>G	ENSP00000382450:p.Ile249Val					ZNF131_uc010ivl.1_Intron|ZNF131_uc003jnj.3_Intron|ZNF131_uc003jnk.2_Intron|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.I249V	NM_003432	NP_003423	P52739	ZN131_HUMAN			5	781	+			249					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.745A>G		.	.	.	.	.	.	.	.	.	.	A	5.407	0.260281	0.10239	.	.	ENSG00000172262	ENST00000509156;ENST00000399534	T;T	0.73363	-0.74;-0.74	5.42	5.42	0.78866	.	0.079709	0.50627	U	0.000103	T	0.61714	0.2369	.	.	.	0.27013	N	0.964644	B	0.25521	0.128	B	0.17433	0.018	T	0.50676	-0.8800	8	.	.	.	-5.8759	15.4594	0.75342	1.0:0.0:0.0:0.0	.	249	P52739	ZN131_HUMAN	V	249	ENSP00000426504:I249V;ENSP00000382450:I249V	.	I	+	1	0	ZNF131	43197481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.880000	0.63107	2.058000	0.61347	0.528000	0.53228	ATT		0.403	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		23	49	0	0	0	0	23	49				
PDE8B	8622	broad.mit.edu	37	5	76715710	76715710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:76715710G>A	ENST00000264917.5	+	19	2293	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	PDE8B_ENST00000346042.3_Missense_Mutation_p.E653K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E703K|PDE8B_ENST00000505283.1_Missense_Mutation_p.E215K|PDE8B_ENST00000333194.4_Missense_Mutation_p.E695K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E730K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	750	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AATGGCAGCTGAGGTGAGTAC	0.448																																						uc003kfa.2		NA																	0					0						c.(2248-2250)GAG>AAG		phosphodiesterase 8B isoform 1							97.0	83.0	88.0					5																	76715710		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76715710G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2248G>A	5.37:g.76715710G>A	ENSP00000264917:p.Glu750Lys					PDE8B_uc003kfb.2_Missense_Mutation_p.E730K|PDE8B_uc003kfc.2_Missense_Mutation_p.E695K|PDE8B_uc003kfd.2_Missense_Mutation_p.E703K|PDE8B_uc003kfe.2_Missense_Mutation_p.E653K	p.E750K	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	19	2293	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	750			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.2248G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709484	0.48517	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.87	5.87	0.94306	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.410613	0.28431	N	0.015362	T	0.60157	0.2247	N	0.04203	-0.255	0.58432	D	0.999999	B;B;B;B;B	0.28933	0.228;0.05;0.082;0.05;0.061	B;B;B;B;B	0.31946	0.138;0.037;0.059;0.037;0.063	T	0.59958	-0.7356	10	0.07030	T	0.85	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	653;703;695;730;750	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	K	703;653;750;730;695;215	ENSP00000345446:E703K;ENSP00000330428:E653K;ENSP00000264917:E750K;ENSP00000345646:E730K;ENSP00000331336:E695K;ENSP00000423461:E215K	ENSP00000264917:E750K	E	+	1	0	PDE8B	76751466	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	8.355000	0.90083	2.781000	0.95711	0.655000	0.94253	GAG		0.448	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		17	33	0	0	0	0	17	33				
RHOBTB3	22836	broad.mit.edu	37	5	95087996	95087996	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:95087996G>A	ENST00000379982.3	+	5	1132	c.624G>A	c.(622-624)aaG>aaA	p.K208K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	208					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAAAAATGAAGAAAAGAAAAA	0.313																																						uc003klm.2		NA																	0				lung(1)|skin(1)	2						c.(622-624)AAG>AAA		rho-related BTB domain containing 3							102.0	108.0	106.0					5																	95087996		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95087996G>A	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.624G>A	5.37:g.95087996G>A						RHOBTB3_uc003klk.1_Silent_p.K2K	p.K208K	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	5	1161	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	208					A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.624G>A	CCDS4077.1																																																																																				0.313	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		46	96	0	0	0	0	46	96				
PJA2	9867	broad.mit.edu	37	5	108691708	108691708	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:108691708C>T	ENST00000361189.2	-	7	1911	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	PJA2_ENST00000361557.3_Missense_Mutation_p.D558N	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	558	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		CCTAGTCCATCTGCAAAGCCA	0.383																																						uc003kos.3		NA																	0				ovary(1)|skin(1)	2						c.(1672-1674)GAT>AAT		praja 2, RING-H2 motif containing							102.0	101.0	101.0					5																	108691708		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108691708C>T	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1672G>A	5.37:g.108691708C>T	ENSP00000354775:p.Asp558Asn						p.D558N	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	7	1892	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	558			Interaction with PRKAR1A, PRKAR2A and PRKAR2B.		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1672G>A	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803631	0.90623	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.06294	3.32;3.32	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.27053	0.805	0.51012	D	0.999907	D	0.89917	1.0	D	0.97110	1.0	T	0.01743	-1.1283	10	0.52906	T	0.07	-29.9093	19.1954	0.93686	0.0:1.0:0.0:0.0	.	558	O43164	PJA2_HUMAN	N	558	ENSP00000354775:D558N;ENSP00000355284:D558N	ENSP00000354775:D558N	D	-	1	0	PJA2	108719607	1.000000	0.71417	0.978000	0.43139	0.914000	0.54420	5.913000	0.69957	2.772000	0.95346	0.650000	0.86243	GAT		0.383	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		39	78	0	0	0	0	39	78				
APC	324	broad.mit.edu	37	5	112137026	112137026	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:112137026G>C	ENST00000457016.1	+	8	1160	c.780G>C	c.(778-780)caG>caC	p.Q260H	APC_ENST00000257430.4_Missense_Mutation_p.Q260H|APC_ENST00000508376.2_Missense_Mutation_p.Q260H			P25054	APC_HUMAN	adenomatous polyposis coli	260	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGAGCGGCAGAATGAAGGTC	0.363		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		0				large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(778-780)CAG>CAC		adenomatous polyposis coli							80.0	78.0	79.0					5																	112137026		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112137026G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.780G>C	5.37:g.112137026G>C	ENSP00000413133:p.Gln260His	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.Q242H|APC_uc003kpz.3_Missense_Mutation_p.Q260H|APC_uc003kpy.3_Missense_Mutation_p.Q260H|APC_uc010jbz.2_5'UTR	p.Q260H	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	8	1160	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	260			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.780G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093335	0.36952	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94184	-2.55;-3.37;-2.55;-2.55;-2.73	5.36	4.48	0.54585	.	0.700494	0.14863	N	0.293987	D	0.90259	0.6954	L	0.44542	1.39	0.31848	N	0.622558	P;P	0.50710	0.938;0.845	B;B	0.43536	0.423;0.254	D	0.90391	0.4395	10	0.52906	T	0.07	-6.5519	10.8506	0.46767	0.1449:0.0:0.8551:0.0	.	262;260	Q4LE70;P25054	.;APC_HUMAN	H	260;242;260;260;260	ENSP00000413133:Q260H;ENSP00000423224:Q242H;ENSP00000257430:Q260H;ENSP00000427089:Q260H;ENSP00000423828:Q260H	ENSP00000257430:Q260H	Q	+	3	2	APC	112164925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.461000	0.53035	2.504000	0.84457	0.585000	0.79938	CAG		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		15	35	0	0	0	0	15	35				
FAM170A	340069	broad.mit.edu	37	5	118968548	118968548	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:118968548C>G	ENST00000515256.1	+	2	348	c.176C>G	c.(175-177)tCc>tGc	p.S59C				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	59					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GAATACTGCTCCTGCGTTTCT	0.547																																						uc003ksm.2		NA																	0				skin(1)	1						c.(175-177)TCC>TGC		family with sequence similarity 170, member A							118.0	119.0	118.0					5																	118968548		1994	4176	6170	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118968548C>G	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.176C>G	5.37:g.118968548C>G	ENSP00000422684:p.Ser59Cys					FAM170A_uc003ksl.2_Missense_Mutation_p.S59C|FAM170A_uc003ksn.2_Missense_Mutation_p.S59C|FAM170A_uc003kso.2_Intron	p.S59C	NM_182761	NP_877438	A1A519	F170A_HUMAN			2	386	+			59					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.176C>G		.	.	.	.	.	.	.	.	.	.	C	14.98	2.696720	0.48202	.	.	ENSG00000164334	ENST00000515256;ENST00000509264	T	0.38887	1.11	4.28	4.28	0.50868	.	0.165377	0.29293	N	0.012567	T	0.59018	0.2163	L	0.60455	1.87	0.28625	N	0.907982	D;D	0.89917	1.0;1.0	D;D	0.74023	0.967;0.982	T	0.52895	-0.8514	9	.	.	.	-11.2346	15.0436	0.71811	0.0:1.0:0.0:0.0	.	59;59	A1A519;A2VCN0	F170A_HUMAN;.	C	59	ENSP00000422684:S59C	.	S	+	2	0	FAM170A	118996447	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	1.169000	0.31871	2.697000	0.92050	0.655000	0.94253	TCC		0.547	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		33	61	0	0	0	0	33	61				
ALDH7A1	501	broad.mit.edu	37	5	125918566	125918566	+	Missense_Mutation	SNP	C	C	T	rs375491094	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:125918566C>T	ENST00000409134.3	-	5	713	c.494G>A	c.(493-495)gGa>gAa	p.G165E	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.G192E|ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.G165E	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	165					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		GATAGGTCCTCCAATCATCCT	0.388																																						uc003ktx.2		NA																	0				kidney(2)|ovary(1)	3						c.(493-495)GGA>GAA		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						106.0	96.0	99.0					5																	125918566		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125918566C>T	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.494G>A	5.37:g.125918566C>T	ENSP00000387123:p.Gly165Glu					ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.G192E|ALDH7A1_uc003ktz.2_Missense_Mutation_p.G192E	p.G165E	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	5	686	-		all_cancers(142;0.24)|Prostate(80;0.081)	165					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.494G>A	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947667	0.53186	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000510111;ENST00000509270	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.16	5.16	0.70880	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	N	0.20845	0.615	0.80722	D	1	B;B;B	0.32829	0.242;0.146;0.386	B;B;B	0.33392	0.101;0.114;0.163	T	0.62388	-0.6865	10	0.34782	T	0.22	.	18.428	0.90615	0.0:1.0:0.0:0.0	.	192;192;165	E7EPT3;B4DMA0;P49419	.;.;AL7A1_HUMAN	E	165;165;192;136;125	ENSP00000387123:G165E;ENSP00000448593:G165E;ENSP00000414132:G192E;ENSP00000447388:G136E;ENSP00000449318:G125E	ENSP00000387123:G165E	G	-	2	0	ALDH7A1	125946465	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.527000	0.81931	2.689000	0.91719	0.557000	0.71058	GGA		0.388	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		30	27	0	0	0	0	30	27				
AFF4	27125	broad.mit.edu	37	5	132232368	132232368	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:132232368C>G	ENST00000265343.5	-	11	2333	c.1954G>C	c.(1954-1956)Gat>Cat	p.D652H	AFF4_ENST00000378595.3_Missense_Mutation_p.D652H	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	652					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCTGAATCTGAGGATGAG	0.438																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NA																	0				ovary(2)|kidney(2)|skin(1)	5						c.(1954-1956)GAT>CAT		ALL1 fused gene from 5q31							65.0	61.0	62.0					5																	132232368		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232368C>G	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1954G>C	5.37:g.132232368C>G	ENSP00000265343:p.Asp652His					AFF4_uc011cxk.1_Missense_Mutation_p.D330H|AFF4_uc003kye.1_Missense_Mutation_p.D652H	p.D652H	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2362	-		all_cancers(142;0.145)|Breast(839;0.198)	652					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.1954G>C	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014735	0.75161	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.66995	-0.24;-0.24	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.919;0.999	D	0.84168	0.0432	10	0.59425	D	0.04	-12.6744	19.1844	0.93637	0.0:1.0:0.0:0.0	.	652;652	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	H	652	ENSP00000265343:D652H;ENSP00000367858:D652H	ENSP00000265343:D652H	D	-	1	0	AFF4	132260267	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.414000	0.80117	2.580000	0.87095	0.563000	0.77884	GAT		0.438	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		38	73	0	0	0	0	38	73				
PCDHA5	56143	broad.mit.edu	37	5	140201501	140201501	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201501C>T	ENST00000529859.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.I47I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.I47I|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCCGCATCGCGCAGGACC	0.647																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(139-141)ATC>ATT		protocadherin alpha 5 isoform 1 precursor							57.0	65.0	62.0					5																	140201501		2203	4300	6503	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140201501C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.141C>T	5.37:g.140201501C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.I47I|PCDHA5_uc003lhj.1_Silent_p.I47I	p.I47I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	141	+			47			Extracellular (Potential).|Cadherin 1.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.141C>T	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		46	56	0	0	0	0	46	56				
PCDHA5	56143	broad.mit.edu	37	5	140201580	140201580	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140201580C>T	ENST00000529859.1	+	1	220	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.L74L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.L74L|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGGACCTTCTGGAGGTAAA	0.647																																						uc003lhl.2		NA																	1	Deletion - Frameshift(1)	p.Q49fs*50(1)	breast(1)	ovary(1)|breast(1)|skin(1)	3						c.(220-222)CTG>TTG		protocadherin alpha 5 isoform 1 precursor							79.0	93.0	88.0					5																	140201580		2203	4300	6503	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140201580C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.220C>T	5.37:g.140201580C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.L74L|PCDHA5_uc003lhj.1_Silent_p.L74L	p.L74L	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	220	+			74			Extracellular (Potential).|Cadherin 1.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.220C>T	CCDS54917.1																																																																																				0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		67	130	0	0	0	0	67	130				
PCDHA6	56142	broad.mit.edu	37	5	140209500	140209500	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657																																						uc003lho.2		NA																	2	Substitution - coding silent(2)		endometrium(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1822-1824)TCG>TCA		protocadherin alpha 6 isoform 1 precursor							81.0	82.0	82.0					5																	140209500		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209500G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1824G>A	5.37:g.140209500G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S608S	p.S608S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1851	+			608			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1824G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		21	46	0	0	0	0	21	46				
PCDHB6	56130	broad.mit.edu	37	5	140532108	140532108	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140532108C>G	ENST00000231136.1	+	1	2270	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.S621*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	757					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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGGAGGCTCAGAAACAAAT	0.562																																						uc003lir.2		NA																	0				skin(1)	1						c.(2269-2271)TCA>TGA		protocadherin beta 6 precursor							139.0	148.0	145.0					5																	140532108		2202	4300	6502	SO:0001587	stop_gained	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532108C>G	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2270C>G	5.37:g.140532108C>G	ENSP00000231136:p.Ser757*					PCDHB6_uc011dah.1_Nonsense_Mutation_p.S621*	p.S757*	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2270	+			757			Cytoplasmic (Potential).		B2R8R9	Nonsense_Mutation	SNP	ENST00000231136.1	37	c.2270C>G	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	38	6.715238	0.97784	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2509	0.87042	0.0:1.0:0.0:0.0	.	.	.	.	X	621;757	.	ENSP00000231136:S757X	S	+	2	0	PCDHB6	140512292	0.880000	0.30214	0.003000	0.11579	0.019000	0.09904	5.673000	0.68109	2.223000	0.72356	0.556000	0.70494	TCA		0.562	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		67	101	0	0	0	0	67	101				
PCDHGA1	56114	broad.mit.edu	37	5	140710402	140710402	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140710402G>A	ENST00000517417.1	+	1	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D51N	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCGCCAAGGACCTAGGGCT	0.557																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(151-153)GAC>AAC		protocadherin gamma subfamily A, 1 isoform 1							101.0	107.0	105.0					5																	140710402		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710402G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.151G>A	5.37:g.140710402G>A	ENSP00000431083:p.Asp51Asn					PCDHGA1_uc011dan.1_Missense_Mutation_p.D51N	p.D51N	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	151	+			51			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.151G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776060	0.90195	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.33654	1.4;1.4	4.37	4.37	0.52481	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.49305	D	0.000152	T	0.65196	0.2668	H	0.96916	3.905	0.40010	D	0.975272	P;P	0.48694	0.914;0.845	P;P	0.50825	0.519;0.651	T	0.80291	-0.1444	10	0.66056	D	0.02	.	17.0903	0.86620	0.0:0.0:1.0:0.0	.	51;51	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	N	51	ENSP00000431083:D51N;ENSP00000367345:D51N	ENSP00000367345:D51N	D	+	1	0	PCDHGA1	140690586	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.775000	0.85489	2.432000	0.82394	0.655000	0.94253	GAC		0.557	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		31	89	0	0	0	0	31	89				
PCDHGA1	56114	broad.mit.edu	37	5	140711728	140711728	+	Missense_Mutation	SNP	G	G	A	rs563853936		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140711728G>A	ENST00000517417.1	+	1	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E493K	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTAATAGAGGACACTAT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18322	0.0		0.0	False		,,,				2504	0.0					uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1477-1479)GAG>AAG		protocadherin gamma subfamily A, 1 isoform 1							106.0	116.0	113.0					5																	140711728		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711728G>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1477G>A	5.37:g.140711728G>A	ENSP00000431083:p.Glu493Lys					PCDHGA1_uc011dan.1_Missense_Mutation_p.E493K	p.E493K	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1477	+			493			Extracellular (Potential).|Cadherin 5.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1477G>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	4.911	0.169256	0.09339	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52754	0.65;0.65	3.82	2.93	0.34026	Cadherin (4);Cadherin-like (1);	0.286197	0.24422	N	0.038680	T	0.49389	0.1554	M	0.79011	2.435	0.09310	N	1	B;B	0.23990	0.025;0.095	B;B	0.33254	0.115;0.16	T	0.51803	-0.8659	10	0.66056	D	0.02	.	7.276	0.26283	0.0933:0.1734:0.7333:0.0	.	493;493	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	K	493	ENSP00000431083:E493K;ENSP00000367345:E493K	ENSP00000367345:E493K	E	+	1	0	PCDHGA1	140691912	0.730000	0.28100	0.023000	0.16930	0.101000	0.19017	2.468000	0.45102	0.933000	0.37291	0.557000	0.71058	GAG		0.537	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		53	135	0	0	0	0	53	135				
PCDHGA9	56107	broad.mit.edu	37	5	140782700	140782700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140782700G>T	ENST00000573521.1	+	1	181	c.181G>T	c.(181-183)Gag>Tag	p.E61*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGCGGAGCGCCGAGT	0.607																																						uc003lkh.1		NA																	0					0						c.(181-183)GAG>TAG		protocadherin gamma subfamily A, 9 isoform 1							63.0	76.0	71.0					5																	140782700		2081	4245	6326	SO:0001587	stop_gained	56107				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140782700G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.181G>T	5.37:g.140782700G>T	ENSP00000460274:p.Glu61*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Nonsense_Mutation_p.E61*	p.E61*	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	181	+			61			Cadherin 1.|Extracellular (Potential).		A2RU65|Q9Y5C9	Nonsense_Mutation	SNP	ENST00000573521.1	37	c.181G>T	CCDS58981.1																																																																																				0.607	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		53	86	1	0	7.42e-26	8.25e-26	53	86				
PCDHGA12	26025	broad.mit.edu	37	5	140812070	140812070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:140812070G>A	ENST00000252085.3	+	1	1886	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A582T(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCGCTCCGCAGAGCCCGG	0.682																																						uc003lkt.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1744-1746)GCA>ACA		protocadherin gamma subfamily A, 12 isoform 1							79.0	92.0	88.0					5																	140812070		2203	4299	6502	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140812070G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1744G>A	5.37:g.140812070G>A	ENSP00000252085:p.Ala582Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A582T	p.A582T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1913	+			582			Cadherin 6.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1744G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.853463	0.51270	.	.	ENSG00000253159	ENST00000252085	T	0.55413	0.52	4.89	3.09	0.35607	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.61652	0.2364	M	0.71036	2.16	0.24966	N	0.991691	P;D	0.60160	0.955;0.987	P;P	0.57720	0.538;0.826	T	0.51624	-0.8682	9	0.52906	T	0.07	.	5.0542	0.14524	0.0715:0.1269:0.54:0.2617	.	582;582	O60330-2;O60330	.;PCDGC_HUMAN	T	582	ENSP00000252085:A582T	ENSP00000252085:A582T	A	+	1	0	PCDHGA12	140792254	0.990000	0.36364	0.680000	0.29994	0.945000	0.59286	3.272000	0.51616	0.582000	0.29556	0.556000	0.70494	GCA		0.682	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		58	105	0	0	0	0	58	105				
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	T	rs370325414		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:150512081C>T	ENST00000354546.5	-	10	919	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199Q|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231Q	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552																																						uc003ltl.1		NA																	1	Substitution - Missense(1)	p.R231Q(1)	ovary(1)		0						c.(691-693)CGA>CAA		annexin VI isoform 1		C	GLN/ARG,GLN/ARG	2,3832		0,2,1915	50.0	52.0	51.0		692,596	5.3	1.0	5		51	0,8256		0,0,4128	no	missense,missense	ANXA6	NM_001155.4,NM_001193544.1	43,43	0,2,6043	TT,TC,CC		0.0,0.0522,0.0165	possibly-damaging,possibly-damaging	231/674,199/642	150512081	2,12088	1917	4128	6045	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512081C>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.692G>A	5.37:g.150512081C>T	ENSP00000346550:p.Arg231Gln					ANXA6_uc011dcp.1_Missense_Mutation_p.R199Q|ANXA6_uc003ltm.1_Missense_Mutation_p.R231Q|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron	p.R231Q	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	844	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	231			Annexin 3.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.692G>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792333	0.70452	5.22E-4	0.0	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.03094	4.05;4.05;4.05	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.269315	0.37715	N	0.001970	T	0.02119	0.0066	N	0.05158	-0.105	0.43734	D	0.996229	P;D	0.53312	0.912;0.959	B;B	0.34489	0.089;0.184	T	0.63686	-0.6581	10	0.51188	T	0.08	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	231;231	A6NN80;P08133	.;ANXA6_HUMAN	Q	231;199;231;105	ENSP00000346550:R231Q;ENSP00000430517:R199Q;ENSP00000348889:R231Q	ENSP00000346550:R231Q	R	-	2	0	ANXA6	150492274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.008000	0.57103	2.487000	0.83934	0.650000	0.86243	CGA		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		7	22	0	0	0	0	7	22				
N4BP3	23138	broad.mit.edu	37	5	177547335	177547335	+	Missense_Mutation	SNP	C	C	T	rs201687291	byFrequency	TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr5:177547335C>T	ENST00000274605.5	+	3	846	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	163				R -> Q (in Ref. 3; AAH53323). {ECO:0000305}.		cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGGGCCCCGGGCCAGCCA	0.706													C|||	2	0.000399361	0.0	0.0	5008	,	,		12197	0.0		0.002	False		,,,				2504	0.0					uc003mik.1		NA																	0					0						c.(487-489)CGG>TGG		Nedd4 binding protein 3		C	TRP/ARG	2,4334		0,2,2166	12.0	17.0	15.0		487	2.4	0.9	5		15	3,8487		0,3,4242	no	missense	N4BP3	NM_015111.1	101	0,5,6408	TT,TC,CC		0.0353,0.0461,0.039	probably-damaging	163/545	177547335	5,12821	2168	4245	6413	SO:0001583	missense	23138					cytoplasmic vesicle membrane		g.chr5:177547335C>T	AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.487C>T	5.37:g.177547335C>T	ENSP00000274605:p.Arg163Trp					N4BP3_uc003mil.1_5'Flank	p.R163W	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	734	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	163	R -> Q (in Ref. 3; AAH53323).				B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	c.487C>T	CCDS34307.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.26	1.885358	0.33255	4.61E-4	3.53E-4	ENSG00000145911	ENST00000274605	T	0.00537	6.72	5.13	2.4	0.29515	.	0.846391	0.10796	N	0.633194	T	0.00412	0.0013	N	0.08118	0	0.25596	N	0.986645	D	0.63880	0.993	P	0.47470	0.548	T	0.56444	-0.7978	10	0.56958	D	0.05	-17.7226	3.8401	0.08911	0.1689:0.5707:0.0:0.2604	.	163	O15049	N4BP3_HUMAN	W	163	ENSP00000274605:R163W	ENSP00000274605:R163W	R	+	1	2	N4BP3	177479941	0.998000	0.40836	0.914000	0.36105	0.057000	0.15508	1.506000	0.35747	0.339000	0.23719	-0.140000	0.14226	CGG		0.706	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111		6	9	0	0	0	0	6	9				
JARID2	3720	broad.mit.edu	37	6	15410497	15410497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:15410497C>T	ENST00000341776.2	+	3	468	c.224C>T	c.(223-225)tCa>tTa	p.S75L	JARID2_ENST00000397311.3_5'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.S37L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	75					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGACCAGCATCAGAACAGTCA	0.463																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(223-225)TCA>TTA		jumonji, AT rich interactive domain 2 protein							217.0	181.0	193.0					6																	15410497		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15410497C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.224C>T	6.37:g.15410497C>T	ENSP00000341280:p.Ser75Leu					JARID2_uc011diu.1_5'UTR|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.S37L	p.S75L	NM_004973	NP_004964	Q92833	JARD2_HUMAN			3	468	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	75					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.224C>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709528	0.68730	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.52983	0.64;1.33	5.48	5.48	0.80851	.	0.648498	0.15885	N	0.239835	T	0.29716	0.0742	L	0.40543	1.245	0.80722	D	1	P;B	0.36535	0.557;0.003	B;B	0.33454	0.164;0.004	T	0.23261	-1.0193	10	0.54805	T	0.06	-3.7414	17.5186	0.87781	0.0:1.0:0.0:0.0	.	37;75	F5H590;Q92833	.;JARD2_HUMAN	L	75;37	ENSP00000341280:S75L;ENSP00000444623:S37L	ENSP00000341280:S75L	S	+	2	0	JARID2	15518476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.114000	0.64648	2.579000	0.87056	0.655000	0.94253	TCA		0.463	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		114	27	0	0	0	0	114	27				
LRRC16A	55604	broad.mit.edu	37	6	25450578	25450578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:25450578C>T	ENST00000329474.6	+	7	849	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	161					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGATTTTCTCAGATGTATGC	0.378																																						uc011djw.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(481-483)CAG>TAG		leucine rich repeat containing 16A							217.0	184.0	195.0					6																	25450578		1865	4107	5972	SO:0001587	stop_gained	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450578C>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.481C>T	6.37:g.25450578C>T	ENSP00000331983:p.Gln161*					LRRC16A_uc010jpx.2_Nonsense_Mutation_p.Q161*|LRRC16A_uc010jpy.2_Nonsense_Mutation_p.Q161*|LRRC16A_uc003nez.1_5'UTR	p.Q161*	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			7	857	+			161					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Nonsense_Mutation	SNP	ENST00000329474.6	37	c.481C>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.445416	0.98289	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.66	5.66	0.87406	.	0.064264	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000331983:Q161X	Q	+	1	0	LRRC16A	25558557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.372000	0.66156	2.832000	0.97577	0.655000	0.94253	CAG		0.378	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		17	14	0	0	0	0	17	14				
OR11A1	26531	broad.mit.edu	37	6	29394966	29394966	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:29394966G>C	ENST00000377149.1	-	5	925	c.453C>G	c.(451-453)ctC>ctG	p.L151L	OR11A1_ENST00000377148.1_Silent_p.L151L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.L151L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAAATCCAGAGAGCCAGGTTG	0.547																																						uc003nmg.2		NA																	0				ovary(1)	1						c.(451-453)CTC>CTG		olfactory receptor, family 11, subfamily A,							67.0	74.0	71.0					6																	29394966		1507	2709	4216	SO:0001819	synonymous_variant	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394966G>C		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.453C>G	6.37:g.29394966G>C							p.L151L	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	544	-			151			Helical; Name=4; (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	c.453C>G	CCDS34363.1																																																																																				0.547	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			17	19	0	0	0	0	17	19				
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:32815407G>A	ENST00000354258.4	-	9	2127	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.Q395*|PSMB9_ENST00000395330.1_Intron|PSMB8_ENST00000374881.2_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	656	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	ATATTTTCTTGAAGACTTCTT	0.468																																						uc003ocg.2		NA																	0				skin(1)	1						c.(1966-1968)CAA>TAA		transporter 1, ATP-binding cassette, sub-family							102.0	98.0	99.0					6																	32815407		2203	4300	6503	SO:0001587	stop_gained	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32815407G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1966C>T	6.37:g.32815407G>A	ENSP00000346206:p.Gln656*					PSMB8_uc003ocf.2_5'Flank|TAP1_uc011dqi.1_Nonsense_Mutation_p.Q395*	p.Q656*	NM_000593	NP_000584	Q03518	TAP1_HUMAN			9	2121	-			656			Cytoplasmic (Potential).|ABC transporter.		Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	c.1966C>T	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	39	7.665649	0.98422	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	1.24	0.21308	.	2.252100	0.01840	N	0.035234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-11.1905	7.1796	0.25765	0.0864:0.0:0.4798:0.4338	.	.	.	.	X	656;395	.	ENSP00000346206:Q656X	Q	-	1	0	TAP1	32923385	0.000000	0.05858	0.004000	0.12327	0.972000	0.66771	0.644000	0.24766	0.305000	0.22832	0.643000	0.83706	CAA		0.468	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		26	15	0	0	0	0	26	15				
ITPR3	3710	broad.mit.edu	37	6	33660555	33660555	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:33660555C>T	ENST00000374316.5	+	56	8569	c.7509C>T	c.(7507-7509)atC>atT	p.I2503I	ITPR3_ENST00000605930.1_Silent_p.I2503I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2503					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCTTCTTCATCGTCATCATCA	0.537																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(7507-7509)ATC>ATT		inositol 1,4,5-triphosphate receptor, type 3							201.0	163.0	176.0					6																	33660555		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33660555C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7509C>T	6.37:g.33660555C>T						ITPR3_uc003oey.2_Silent_p.I590I	p.I2503I	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			55	7728	+			2503			Helical; (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7509C>T	CCDS4783.1																																																																																				0.537	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		32	35	0	0	0	0	32	35				
KCNK5	8645	broad.mit.edu	37	6	39159321	39159321	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39159321C>T	ENST00000359534.3	-	5	1183	c.845G>A	c.(844-846)aGc>aAc	p.S282N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	282					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGAGGCTGTGCTCCCCTTCAC	0.547																																						uc003oon.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(844-846)AGC>AAC		potassium channel, subfamily K, member 5							109.0	112.0	111.0					6																	39159321		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159321C>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.845G>A	6.37:g.39159321C>T	ENSP00000352527:p.Ser282Asn						p.S282N	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1209	-			282			Cytoplasmic (Potential).		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.845G>A	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	0.988	-0.694967	0.03303	.	.	ENSG00000164626	ENST00000359534	T	0.20069	2.1	4.82	2.09	0.27110	.	1.543030	0.04130	N	0.317858	T	0.04907	0.0132	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	10	0.29301	T	0.29	.	7.3819	0.26859	0.0:0.7476:0.0:0.2524	.	282	O95279	KCNK5_HUMAN	N	282	ENSP00000352527:S282N	ENSP00000352527:S282N	S	-	2	0	KCNK5	39267299	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.373000	0.20484	0.253000	0.21552	0.561000	0.74099	AGC		0.547	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		71	48	0	0	0	0	71	48				
DAAM2	23500	broad.mit.edu	37	6	39846340	39846340	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:39846340G>C	ENST00000398904.2	+	13	1703	c.1521G>C	c.(1519-1521)ctG>ctC	p.L507L	DAAM2_ENST00000274867.4_Silent_p.L507L|DAAM2_ENST00000538976.1_Silent_p.L507L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	507					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGCAGAGCTGGTAGCCCAGC	0.582																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(1519-1521)CTG>CTC		dishevelled associated activator of							28.0	34.0	32.0					6																	39846340		1998	4162	6160	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39846340G>C	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1521G>C	6.37:g.39846340G>C						DAAM2_uc010jxc.2_Silent_p.L507L|DAAM2_uc003oox.2_Silent_p.L507L	p.L507L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			13	1677	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		507			Potential.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1521G>C	CCDS56426.1																																																																																				0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			3	1	0	0	0	0	3	1				
GCM1	8521	broad.mit.edu	37	6	52993467	52993467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:52993467G>A	ENST00000259803.7	-	6	1059	c.848C>T	c.(847-849)tCt>tTt	p.S283F	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	283					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TCCGGAGGCAGAAGGAGGAAG	0.473																																						uc003pbp.2		NA																	0				central_nervous_system(1)	1						c.(847-849)TCT>TTT		glial cells missing homolog a							88.0	88.0	88.0					6																	52993467		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993467G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.848C>T	6.37:g.52993467G>A	ENSP00000259803:p.Ser283Phe						p.S283F	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1057	-	Lung NSC(77;0.0755)		283					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.848C>T	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759110	0.31137	.	.	ENSG00000137270	ENST00000259803	T	0.74632	-0.86	5.64	5.64	0.86602	.	0.669645	0.14628	N	0.307961	T	0.60379	0.2264	N	0.19112	0.55	0.09310	N	1	P	0.51791	0.948	P	0.49708	0.62	T	0.62177	-0.6909	10	0.59425	D	0.04	-4.0789	16.6119	0.84885	0.0:0.0:1.0:0.0	.	283	Q9NP62	GCM1_HUMAN	F	283	ENSP00000259803:S283F	ENSP00000259803:S283F	S	-	2	0	GCM1	53101426	0.409000	0.25368	0.020000	0.16555	0.220000	0.24768	5.234000	0.65343	2.675000	0.91044	0.591000	0.81541	TCT		0.473	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			22	48	0	0	0	0	22	48				
IBTK	25998	broad.mit.edu	37	6	82927733	82927733	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:82927733C>G	ENST00000306270.7	-	10	1919	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A	IBTK_ENST00000510291.1_Missense_Mutation_p.G457A|IBTK_ENST00000503631.1_Missense_Mutation_p.G457A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	457					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAATCCTTCTCCATCTTGCGT	0.353																																						uc003pjl.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1369-1371)GGA>GCA		inhibitor of Bruton's tyrosine kinase							103.0	102.0	102.0					6																	82927733		2203	4300	6503	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82927733C>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1370G>C	6.37:g.82927733C>G	ENSP00000305721:p.Gly457Ala					IBTK_uc011dyv.1_Missense_Mutation_p.G457A|IBTK_uc011dyw.1_Missense_Mutation_p.G457A|IBTK_uc010kbi.1_Missense_Mutation_p.G151A|IBTK_uc003pjm.2_Missense_Mutation_p.G457A	p.G457A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	10	1897	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	457					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.1370G>C	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496996	0.85069	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.63913	0.59;-0.07;0.63	5.5	5.5	0.81552	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;0.999	T	0.80103	-0.1522	10	0.62326	D	0.03	-12.8013	19.4102	0.94670	0.0:1.0:0.0:0.0	.	457;457;457;457	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	A	457	ENSP00000305721:G457A;ENSP00000422762:G457A;ENSP00000426405:G457A	ENSP00000305721:G457A	G	-	2	0	IBTK	82984452	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.232000	0.78116	2.589000	0.87451	0.462000	0.41574	GGA		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		21	32	0	0	0	0	21	32				
DOPEY1	23033	broad.mit.edu	37	6	83830475	83830475	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:83830475G>A	ENST00000349129.2	+	10	1324	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R346H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R346H|DOPEY1_ENST00000536812.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	355					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTTTTCGCATTTTAATC	0.368																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1063-1065)CGC>CAC		dopey family member 1							132.0	124.0	127.0					6																	83830475		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83830475G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1064G>A	6.37:g.83830475G>A	ENSP00000195654:p.Arg355His					DOPEY1_uc011dyy.1_Missense_Mutation_p.R346H|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346H	p.R355H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	10	1324	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	355					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1064G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980918	0.92982	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.49720	0.79;0.82;0.77	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.994	T	0.71286	-0.4638	10	0.62326	D	0.03	.	16.2697	0.82608	0.0:0.0:0.8665:0.1335	.	252;346;355	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	355;346;346	ENSP00000195654:R355H;ENSP00000237163:R346H;ENSP00000358754:R346H	ENSP00000237163:R346H	R	+	2	0	DOPEY1	83887194	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	7.776000	0.85560	1.417000	0.47077	0.557000	0.71058	CGC		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		12	45	0	0	0	0	12	45				
PNISR	25957	broad.mit.edu	37	6	99856061	99856061	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:99856061C>T	ENST00000369239.5	-	7	964	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	PNISR_ENST00000438806.1_Missense_Mutation_p.E254K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	254						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCATTCTTTCTTTCTCCAAT	0.443																																						uc003ppo.3		NA																	0					0						c.(760-762)GAA>AAA		splicing factor, arginine/serine-rich 130							117.0	106.0	110.0					6																	99856061		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99856061C>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.760G>A	6.37:g.99856061C>T	ENSP00000358242:p.Glu254Lys					SFRS18_uc003ppp.3_Missense_Mutation_p.E254K|SFRS18_uc011eag.1_Missense_Mutation_p.E254K|SFRS18_uc003ppr.2_Missense_Mutation_p.E254K	p.E254K	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0631)	7	988	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	254			Potential.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.760G>A	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	36	5.836933	0.97009	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.45668	0.89;0.89	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.79693	2.465	0.80722	D	1	P	0.37330	0.59	B	0.43536	0.423	T	0.53809	-0.8386	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	254	Q8TF01	PNISR_HUMAN	K	254	ENSP00000358242:E254K;ENSP00000387997:E254K	ENSP00000358242:E254K	E	-	1	0	PNISR	99962782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAA		0.443	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		52	68	0	0	0	0	52	68				
SLC22A16	85413	broad.mit.edu	37	6	110778028	110778028	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:110778028C>G	ENST00000368919.3	-	2	312	c.246G>C	c.(244-246)caG>caC	p.Q82H	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.Q82H|SLC22A16_ENST00000456137.2_Missense_Mutation_p.Q82H|SLC22A16_ENST00000330550.4_Intron	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	82					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CATAATCTTTCTGGCCTGAAG	0.488																																						uc003puf.2		NA																	0				ovary(1)	1						c.(244-246)CAG>CAC		solute carrier family 22, member 16							156.0	160.0	159.0					6																	110778028		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110778028C>G		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.246G>C	6.37:g.110778028C>G	ENSP00000357915:p.Gln82His					SLC22A16_uc003pue.2_Intron|SLC22A16_uc003pug.2_Missense_Mutation_p.Q82H	p.Q82H	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	313	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	82					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.246G>C	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	4.334	0.061476	0.08339	.	.	ENSG00000004809	ENST00000368919;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	T;T;T;T;T	0.64803	1.2;1.2;-0.12;1.2;-0.12	4.39	-6.56	0.01848	.	.	.	.	.	T	0.09992	0.0245	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18398	-1.0338	9	0.40728	T	0.16	.	2.6251	0.04927	0.518:0.1861:0.1915:0.1044	.	82	Q86VW1	S22AG_HUMAN	H	82;82;39;82;39	ENSP00000357915:Q82H;ENSP00000408799:Q82H;ENSP00000416310:Q39H;ENSP00000402111:Q82H;ENSP00000401007:Q39H	ENSP00000357915:Q82H	Q	-	3	2	SLC22A16	110884721	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.815000	0.01722	-1.216000	0.02607	-0.261000	0.10672	CAG		0.488	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		64	128	0	0	0	0	64	128				
GTF3C6	112495	broad.mit.edu	37	6	111288781	111288781	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:111288781C>G	ENST00000329970.7	+	6	640	c.430C>G	c.(430-432)Cta>Gta	p.L144V	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	144					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTGTAACTTTCTACATGAAAA	0.393																																						uc003pum.2		NA																	0					0						c.(430-432)CTA>GTA		general transcription factor IIIC, polypeptide							120.0	127.0	124.0					6																	111288781		2203	4300	6503	SO:0001583	missense	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288781C>G	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.430C>G	6.37:g.111288781C>G	ENSP00000357863:p.Leu144Val						p.L144V	NM_138408	NP_612417	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	640	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	144					Q5VXN2	Missense_Mutation	SNP	ENST00000329970.7	37	c.430C>G	CCDS5087.1	.	.	.	.	.	.	.	.	.	.	c	5.028	0.190931	0.09547	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.24	-3.01	0.05463	.	1.172650	0.06272	N	0.695800	T	0.10895	0.0266	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.33033	-0.9884	9	0.27785	T	0.31	-5.2377	7.4351	0.27150	0.177:0.2662:0.4907:0.0661	.	144	Q969F1	TF3C6_HUMAN	V	144	.	ENSP00000357863:L144V	L	+	1	2	GTF3C6	111395474	0.584000	0.26766	0.026000	0.17262	0.454000	0.32378	-0.187000	0.09656	-0.265000	0.09352	0.491000	0.48974	CTA		0.393	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		62	121	0	0	0	0	62	121				
TSPYL1	7259	broad.mit.edu	37	6	116599934	116599934	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:116599934G>C	ENST00000368608.3	-	1	1132	c.1060C>G	c.(1060-1062)Cca>Gca	p.P354A	DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	354					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CATATAATTGGAGTAGAAAGA	0.473																																						uc003pwp.3		NA																	0					0						c.(1060-1062)CCA>GCA		TSPY-like 1							97.0	104.0	101.0					6																	116599934		2203	4300	6503	SO:0001583	missense	7259				nucleosome assembly	nucleolus		g.chr6:116599934G>C	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.1060C>G	6.37:g.116599934G>C	ENSP00000357597:p.Pro354Ala					DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	p.P354A	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	1347	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	354					O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	c.1060C>G	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586779	0.66105	.	.	ENSG00000189241	ENST00000368608	T	0.26373	1.74	4.32	4.32	0.51571	.	0.000000	0.36628	N	0.002492	T	0.34250	0.0891	L	0.53729	1.69	0.54753	D	0.999984	D	0.64830	0.994	D	0.68765	0.96	T	0.02736	-1.1117	10	0.59425	D	0.04	-8.8422	12.6056	0.56521	0.0:0.0:1.0:0.0	.	354	Q9H0U9	TSYL1_HUMAN	A	354	ENSP00000357597:P354A	ENSP00000357597:P354A	P	-	1	0	TSPYL1	116706627	0.994000	0.37717	0.881000	0.34555	0.979000	0.70002	3.235000	0.51328	2.693000	0.91896	0.561000	0.74099	CCA		0.473	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1			43	98	0	0	0	0	43	98				
GPRC6A	222545	broad.mit.edu	37	6	117150061	117150061	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:117150061C>G	ENST00000310357.3	-	1	137	c.116G>C	c.(115-117)gGa>gCa	p.G39A	GPRC6A_ENST00000530250.1_Missense_Mutation_p.G39A|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G39A	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	39					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAACAAACCTCCAATTATGAT	0.433																																						uc003pxj.1		NA																	0				ovary(4)|skin(2)	6						c.(115-117)GGA>GCA		G protein-coupled receptor, family C, group 6,							88.0	88.0	88.0					6																	117150061		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117150061C>G	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.116G>C	6.37:g.117150061C>G	ENSP00000309493:p.Gly39Ala					GPRC6A_uc003pxk.1_Missense_Mutation_p.G39A|GPRC6A_uc003pxl.1_Missense_Mutation_p.G39A	p.G39A	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	1	138	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	39			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.116G>C	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871785	0.72180	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.94758	-3.51;-3.51;-3.51	5.18	5.18	0.71444	.	0.071189	0.53938	D	0.000047	D	0.91862	0.7424	N	0.08118	0	0.26985	N	0.965279	D;D;D	0.89917	1.0;0.981;0.997	D;P;D	0.91635	0.999;0.777;0.958	D	0.88379	0.3000	10	0.62326	D	0.03	.	17.0749	0.86583	0.0:1.0:0.0:0.0	.	39;39;39	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	A	39	ENSP00000309493:G39A;ENSP00000357537:G39A;ENSP00000433465:G39A	ENSP00000309493:G39A	G	-	2	0	GPRC6A	117256754	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.929000	0.48916	2.713000	0.92767	0.655000	0.94253	GGA		0.433	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			22	33	0	0	0	0	22	33				
TRDN	10345	broad.mit.edu	37	6	123869710	123869710	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:123869710C>T	ENST00000398178.3	-	3	301	c.280G>A	c.(280-282)Gat>Aat	p.D94N	TRDN_ENST00000542443.1_Missense_Mutation_p.D94N|TRDN_ENST00000334268.4_Missense_Mutation_p.D94N|TRDN_ENST00000546248.1_Missense_Mutation_p.D94N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	94					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCCATAGCATCACGTACCAGT	0.353																																						uc003pzj.1		NA																	0				ovary(1)	1						c.(280-282)GAT>AAT		triadin							51.0	51.0	51.0					6																	123869710		1839	4089	5928	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123869710C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.280G>A	6.37:g.123869710C>T	ENSP00000381240:p.Asp94Asn					TRDN_uc003pzk.1_Missense_Mutation_p.D94N|TRDN_uc003pzl.1_Missense_Mutation_p.D94N|TRDN_uc010ken.2_Missense_Mutation_p.D94N|TRDN_uc010keo.1_Missense_Mutation_p.D94N	p.D94N	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	3	302	-			94			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.280G>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157695	0.57368	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.65178	1.33;1.33;1.33;-0.14	5.29	4.41	0.53225	Aspartyl beta-hydroxylase/Triadin domain (1);	0.152775	0.41500	D	0.000871	T	0.65080	0.2657	M	0.75447	2.3	0.25763	N	0.98492	P;D;P;P;P	0.60575	0.763;0.988;0.822;0.822;0.896	B;P;B;B;B	0.57911	0.311;0.829;0.419;0.419;0.419	T	0.63287	-0.6671	10	0.66056	D	0.02	-5.2832	14.212	0.65771	0.0:0.8505:0.1495:0.0	.	94;94;94;94;94	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	94	ENSP00000381240:D94N;ENSP00000333984:D94N;ENSP00000439281:D94N;ENSP00000437684:D94N	ENSP00000333984:D94N	D	-	1	0	TRDN	123911409	1.000000	0.71417	0.986000	0.45419	0.821000	0.46438	1.657000	0.37366	1.181000	0.42912	0.655000	0.94253	GAT		0.353	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	4	0	0	0	0	4	4				
ENPP3	5169	broad.mit.edu	37	6	131999049	131999049	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:131999049C>G	ENST00000414305.1	+	12	1308	c.980C>G	c.(979-981)tCt>tGt	p.S327C	ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.S327C|ENPP3_ENST00000358229.5_Missense_Mutation_p.S327C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	327	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGATTCCTCTGGACATGCA	0.348																																						uc003qcu.3		NA																	0				ovary(3)|skin(1)	4						c.(979-981)TCT>TGT		ectonucleotide pyrophosphatase/phosphodiesterase							81.0	81.0	81.0					6																	131999049		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131999049C>G	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.980C>G	6.37:g.131999049C>G	ENSP00000406261:p.Ser327Cys					ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.S327C	p.S327C	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	12	1327	+	Breast(56;0.0753)		327			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.980C>G	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497167	0.64186	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.73047	-0.71;-0.71;-0.71	5.48	4.61	0.57282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.359368	0.26496	N	0.024047	D	0.83151	0.5192	M	0.90145	3.09	0.80722	D	1	D	0.62365	0.991	D	0.68483	0.958	D	0.87485	0.2423	10	0.87932	D	0	-8.6265	14.8725	0.70468	0.1451:0.8549:0.0:0.0	.	327	O14638	ENPP3_HUMAN	C	327	ENSP00000406261:S327C;ENSP00000350265:S327C;ENSP00000350964:S327C	ENSP00000350265:S327C	S	+	2	0	ENPP3	132040742	0.735000	0.28153	0.946000	0.38457	0.560000	0.35617	3.324000	0.52022	1.429000	0.47314	0.650000	0.86243	TCT		0.348	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			18	40	0	0	0	0	18	40				
BCLAF1	9774	broad.mit.edu	37	6	136599330	136599330	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:136599330G>A	ENST00000531224.1	-	4	941	c.689C>T	c.(688-690)tCa>tTa	p.S230L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S228L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S230L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S230L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S228L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S228L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	230					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGCAATAGGTGAAGGACTATG	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(688-690)TCA>TTA		BCL2-associated transcription factor 1 isoform							220.0	209.0	212.0					6																	136599330		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599330G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.689C>T	6.37:g.136599330G>A	ENSP00000435210:p.Ser230Leu					BCLAF1_uc003qgw.1_Missense_Mutation_p.S230L|BCLAF1_uc003qgy.1_Missense_Mutation_p.S228L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S228L	p.S230L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	942	-	Colorectal(23;0.24)		230					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.689C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136682	0.77662	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000024	T	0.29223	0.0727	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.66351	0.943;0.943;0.943;0.943	T	0.00360	-1.1790	10	0.46703	T	0.11	-4.7915	20.1012	0.97876	0.0:0.0:1.0:0.0	.	228;228;230;230	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	230;228;230;230;228;228;230	ENSP00000435210:S230L;ENSP00000229446:S228L;ENSP00000435441:S230L;ENSP00000436501:S230L;ENSP00000434826:S228L;ENSP00000376159:S228L;ENSP00000431734:S230L	ENSP00000229446:S228L	S	-	2	0	BCLAF1	136641023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.074000	0.76791	2.754000	0.94517	0.650000	0.86243	TCA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		41	125	0	0	0	0	41	125				
SLC35D3	340146	broad.mit.edu	37	6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C	rs368466205		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:137245833G>C	ENST00000331858.4	+	2	1415	c.1250G>C	c.(1249-1251)tGa>tCa	p.*417S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	0					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408																																						uc003qhe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1249-1251)TGA>TCA		solute carrier family 35, member D3							73.0	79.0	77.0					6																	137245833		2203	4300	6503	SO:0001578	stop_lost	340146				carbohydrate transport	integral to membrane		g.chr6:137245833G>C		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1250G>C	6.37:g.137245833G>C	ENSP00000333591:p.*417Serext*17						p.*417S	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1415	+	Colorectal(23;0.24)		417					B4DI58|Q5QNZ6|Q6NX71	Nonstop_Mutation	SNP	ENST00000331858.4	37	c.1250G>C	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506115	0.26949	.	.	ENSG00000182747	ENST00000331858	.	.	.	5.07	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9743	0.41774	0.161:0.0:0.839:0.0	.	.	.	.	S	417	.	.	X	+	2	2	SLC35D3	137287526	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	3.283000	0.51701	1.365000	0.46057	0.655000	0.94253	TGA		0.408	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		25	34	0	0	0	0	25	34				
PERP	64065	broad.mit.edu	37	6	138428475	138428475	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:138428475C>A	ENST00000421351.3	-	1	173	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	1					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CGCAGCGGATCATGTTGACGG	0.756																																						uc003qht.2		NA																	0					0						c.(1-3)ATG>ATT		PERP, TP53 apoptosis effector							12.0	17.0	15.0					6																	138428475		1856	3698	5554	SO:0001582	initiator_codon_variant	64065				apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		g.chr6:138428475C>A	AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"""keratinocyte associated protein 1"""	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.3G>T	6.37:g.138428475C>A	ENSP00000397157:p.Met1Ile						p.M1I	NM_022121	NP_071404	Q96FX8	PERP_HUMAN		GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)	1	186	-	Breast(32;0.0799)|Colorectal(23;0.24)		1					B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	ENST00000421351.3	37	c.3G>T	CCDS5188.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.544929	0.86022	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	T	0.50813	0.73	4.14	4.14	0.48551	.	0.090204	0.85682	D	0.000000	T	0.54224	0.1845	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.60994	-0.7152	9	0.87932	D	0	-28.7801	13.4358	0.61084	0.0:1.0:0.0:0.0	.	1	Q96FX8	PERP_HUMAN	I	1	ENSP00000397157:M1I	ENSP00000265603:M1I	M	-	3	0	PERP	138470168	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	5.277000	0.65586	2.146000	0.66826	0.556000	0.70494	ATG		0.756	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042423.2	NM_022121	Missense_Mutation	20	35	1	0	2.39e-15	2.61e-15	20	35				
SHPRH	257218	broad.mit.edu	37	6	146264599	146264599	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:146264599C>T	ENST00000367505.2	-	9	2182	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	SHPRH_ENST00000367503.3_Missense_Mutation_p.D640N|SHPRH_ENST00000275233.7_Missense_Mutation_p.D640N|SHPRH_ENST00000438092.2_Missense_Mutation_p.D640N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	640					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D640N(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACATCACTATCAGCATGATTT	0.393																																						uc003qlf.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1918-1920)GAT>AAT		SNF2 histone linker PHD RING helicase isoform a							170.0	161.0	164.0					6																	146264599		1958	4153	6111	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264599C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1918G>A	6.37:g.146264599C>T	ENSP00000356475:p.Asp640Asn					SHPRH_uc003qld.2_Missense_Mutation_p.D640N|SHPRH_uc003qle.2_Missense_Mutation_p.D640N|SHPRH_uc003qlg.1_Missense_Mutation_p.D196N|SHPRH_uc003qlj.1_Missense_Mutation_p.D529N	p.D640N	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2317	-		Ovarian(120;0.0365)	640					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1918G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271008	0.23221	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.46	4.58	0.56647	DEAD-like helicase (1);	0.758119	0.12755	N	0.441839	T	0.40222	0.1108	N	0.22421	0.69	0.09310	N	1	B;B;B;P	0.34800	0.016;0.101;0.05;0.469	B;B;B;B	0.31869	0.022;0.035;0.034;0.137	T	0.06373	-1.0830	10	0.23891	T	0.37	-0.0286	9.0311	0.36260	0.0:0.8166:0.0:0.1834	.	529;640;640;529	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	N	640;640;640;640;529	ENSP00000356475:D640N;ENSP00000356473:D640N;ENSP00000412797:D640N;ENSP00000275233:D640N	ENSP00000275233:D640N	D	-	1	0	SHPRH	146306292	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	0.081000	0.14823	2.740000	0.93945	0.650000	0.86243	GAT		0.393	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		42	90	0	0	0	0	42	90				
NUP43	348995	broad.mit.edu	37	6	150052833	150052833	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:150052833G>C	ENST00000340413.2	-	7	905	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.L181V|NUP43_ENST00000460354.2_Missense_Mutation_p.L277V	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	277					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAGGTAAAAAGATGTTCTGGG	0.423																																						uc003qmz.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(829-831)CTT>GTT		nucleoporin 43kDa							121.0	110.0	114.0					6																	150052833		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150052833G>C	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.829C>G	6.37:g.150052833G>C	ENSP00000342262:p.Leu277Val					NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.L181V	p.L277V	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	7	886	-		Ovarian(120;0.0164)	277			WD 6.		B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.829C>G	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517457	0.64634	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367404	T;T;T	0.70516	-0.49;-0.49;-0.28	5.75	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.99;0.997	T	0.78204	-0.2295	10	0.48119	T	0.1	-6.3595	6.136	0.20233	0.3537:0.0:0.6463:0.0	.	181;277	B4E2F0;Q8NFH3	.;NUP43_HUMAN	V	277;277;181	ENSP00000342262:L277V;ENSP00000432401:L277V;ENSP00000356374:L181V	ENSP00000342262:L277V	L	-	1	0	NUP43	150094526	1.000000	0.71417	0.938000	0.37757	0.844000	0.47949	1.996000	0.40776	1.338000	0.45544	0.655000	0.94253	CTT		0.423	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		15	27	0	0	0	0	15	27				
PLEKHG1	57480	broad.mit.edu	37	6	151152198	151152198	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:151152198G>C	ENST00000358517.2	+	15	2162	c.1951G>C	c.(1951-1953)Gag>Cag	p.E651Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.E651Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	651							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTCATCCATAGAGTTGACTAT	0.453																																						uc003qny.1		NA																	0				ovary(2)	2						c.(1951-1953)GAG>CAG		pleckstrin homology domain containing, family G							49.0	44.0	46.0					6																	151152198		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152198G>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1951G>C	6.37:g.151152198G>C	ENSP00000351318:p.Glu651Gln					PLEKHG1_uc011eel.1_Missense_Mutation_p.E691Q|PLEKHG1_uc011eem.1_Missense_Mutation_p.E710Q|PLEKHG1_uc003qnz.2_Missense_Mutation_p.E651Q	p.E651Q	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2263	+			651					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1951G>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581852	0.46006	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.60040	0.22;0.22	5.52	5.52	0.82312	.	0.098849	0.64402	D	0.000001	T	0.62478	0.2431	L	0.46157	1.445	0.49687	D	0.999813	P;D;D	0.71674	0.615;0.998;0.998	B;D;D	0.65684	0.158;0.937;0.937	T	0.55431	-0.8142	10	0.27785	T	0.31	.	19.4921	0.95054	0.0:0.0:1.0:0.0	.	458;651;651	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	651	ENSP00000356297:E651Q;ENSP00000351318:E651Q	ENSP00000351318:E651Q	E	+	1	0	PLEKHG1	151193891	1.000000	0.71417	0.753000	0.31225	0.086000	0.17979	7.628000	0.83189	2.612000	0.88384	0.555000	0.69702	GAG		0.453	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			12	18	0	0	0	0	12	18				
SYNE1	23345	broad.mit.edu	37	6	152644705	152644705	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:152644705G>C	ENST00000367255.5	-	82	16426	c.15825C>G	c.(15823-15825)acC>acG	p.T5275T	SYNE1_ENST00000265368.4_Silent_p.T5275T|SYNE1_ENST00000448038.1_Silent_p.T5204T|SYNE1_ENST00000423061.1_Silent_p.T5204T|SYNE1_ENST00000341594.5_Silent_p.T4968T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5275					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGCTCAGGGTTTGCTGCC	0.567										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(15823-15825)ACC>ACG		spectrin repeat containing, nuclear envelope 1							76.0	75.0	76.0					6																	152644705		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152644705G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15825C>G	6.37:g.152644705G>C		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.T5204T|SYNE1_uc003qou.3_Silent_p.T5275T|SYNE1_uc010kiz.2_Silent_p.T1030T	p.T5275T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	82	16427	-		Ovarian(120;0.0955)	5275			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15825C>G	CCDS5236.2																																																																																				0.567	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		26	46	0	0	0	0	26	46				
C6orf120	387263	broad.mit.edu	37	6	170102948	170102948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170102948G>A	ENST00000332290.2	+	1	692	c.393G>A	c.(391-393)atG>atA	p.M131I	WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.M150I|WDR27_ENST00000423258.1_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	131					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGTTCGAGATGAAGGTGTACT	0.711																																						uc003qxb.2		NA																	0					0						c.(391-393)ATG>ATA		hypothetical protein LOC387263 precursor							28.0	29.0	29.0					6																	170102948		2203	4297	6500	SO:0001583	missense	387263					extracellular region		g.chr6:170102948G>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.393G>A	6.37:g.170102948G>A	ENSP00000346931:p.Met131Ile					WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.M150I	p.M131I	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	692	+		Breast(66;0.000338)	131					B4DHE9|E1P5C9	Missense_Mutation	SNP	ENST00000332290.2	37	c.393G>A	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186519	0.38609	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.44	4.57	0.56435	.	0.054769	0.64402	U	0.000001	T	0.38321	0.1036	L	0.60455	1.87	0.46609	D	0.999127	P;B	0.36412	0.552;0.11	B;B	0.36378	0.223;0.038	T	0.44513	-0.9323	9	0.51188	T	0.08	-36.8755	9.9077	0.41386	0.1552:0.0:0.8448:0.0	.	150;131	B4DJ79;Q7Z4R8	.;CF120_HUMAN	I	150;131	.	ENSP00000346931:M131I	M	+	3	0	C6orf120	169844873	1.000000	0.71417	0.893000	0.35052	0.034000	0.12701	5.247000	0.65416	1.441000	0.47550	-0.142000	0.14014	ATG		0.711	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		10	24	0	0	0	0	10	24				
FAM120B	84498	broad.mit.edu	37	6	170626882	170626882	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr6:170626882C>G	ENST00000476287.1	+	2	512	c.404C>G	c.(403-405)tCa>tGa	p.S135*	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.S158*|FAM120B_ENST00000540480.1_Nonsense_Mutation_p.S147*	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	135					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TTCATCCCCTCAGGGCTAGCT	0.458																																						uc003qxp.2		NA																	0				ovary(1)	1						c.(403-405)TCA>TGA		family with sequence similarity 120B							82.0	78.0	79.0					6																	170626882		2203	4300	6503	SO:0001587	stop_gained	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170626882C>G	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.404C>G	6.37:g.170626882C>G	ENSP00000417970:p.Ser135*					FAM120B_uc003qxo.1_Nonsense_Mutation_p.S135*|FAM120B_uc011ehd.1_Intron	p.S135*	NM_032448	NP_115824	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	512	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	135					B4DL34|Q86V68|Q96JI9	Nonsense_Mutation	SNP	ENST00000476287.1	37	c.404C>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494712	0.96339	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	.	.	.	6.07	6.07	0.98685	.	0.179224	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-6.4142	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	147;158;135	.	ENSP00000436640:S135X	S	+	2	0	FAM120B	170468807	1.000000	0.71417	0.927000	0.36925	0.425000	0.31504	5.516000	0.67055	2.885000	0.99019	0.655000	0.94253	TCA		0.458	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		36	67	0	0	0	0	36	67				
SDK1	221935	broad.mit.edu	37	7	4247913	4247913	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4247913G>A	ENST00000404826.2	+	37	5536	c.5397G>A	c.(5395-5397)caG>caA	p.Q1799Q	SDK1_ENST00000389531.3_Silent_p.Q1779Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1799	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCACCCACCAGGCCGGTAGGA	0.627																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(5395-5397)CAG>CAA		sidekick 1 precursor							50.0	54.0	53.0					7																	4247913		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4247913G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5397G>A	7.37:g.4247913G>A						SDK1_uc010kso.2_Silent_p.Q1055Q|SDK1_uc003smy.2_Silent_p.Q286Q	p.Q1799Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	37	5536	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1799					Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5397G>A	CCDS34590.1																																																																																				0.627	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		8	26	0	0	0	0	8	26				
RADIL	55698	broad.mit.edu	37	7	4862113	4862113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:4862113C>T	ENST00000399583.3	-	6	1714	c.1527G>A	c.(1525-1527)tgG>tgA	p.W509*	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Nonsense_Mutation_p.W269*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	509	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGTTAGACATCCAGAAAAGAA	0.537																																						uc003snj.1		NA																	0		p.W509*(1)		lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(1525-1527)TGG>TGA		Rap GTPase interactor							53.0	60.0	58.0					7																	4862113		1958	4154	6112	SO:0001587	stop_gained	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4862113C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1527G>A	7.37:g.4862113C>T	ENSP00000382492:p.Trp509*					RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Nonsense_Mutation_p.W14*|RADIL_uc011jwc.1_Nonsense_Mutation_p.W269*|RADIL_uc011jwd.1_Intron	p.W509*	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	6	1700	-		Ovarian(82;0.0175)	509			Dilute.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	ENST00000399583.3	37	c.1527G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	41	8.824807	0.98968	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6001	19.3514	0.94389	0.0:1.0:0.0:0.0	.	.	.	.	X	509;480;243;269	.	ENSP00000320946:W480X	W	-	3	0	RADIL	4828639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.143000	0.77348	2.826000	0.97356	0.561000	0.74099	TGG		0.537	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		12	42	0	0	0	0	12	42				
AHR	196	broad.mit.edu	37	7	17379231	17379231	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:17379231C>G	ENST00000242057.4	+	10	2425	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	594					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AGTCTCCCTTCATACCTTCAG	0.403																																						uc011jxz.1		NA																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1780-1782)TTC>TTG		aryl hydrocarbon receptor precursor							115.0	109.0	111.0					7																	17379231		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379231C>G	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1782C>G	7.37:g.17379231C>G	ENSP00000242057:p.Phe594Leu					AHR_uc003stt.3_RNA	p.F594L	NM_001621	NP_001612	P35869	AHR_HUMAN			10	2395	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		594					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.1782C>G	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469595	0.04445	.	.	ENSG00000106546	ENST00000242057	T	0.15256	2.44	6.0	-2.93	0.05598	.	0.502361	0.23534	N	0.047149	T	0.08582	0.0213	L	0.41573	1.285	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.38090	-0.9677	10	0.10377	T	0.69	.	3.2723	0.06886	0.0969:0.213:0.3952:0.2949	.	594	P35869	AHR_HUMAN	L	594	ENSP00000242057:F594L	ENSP00000242057:F594L	F	+	3	2	AHR	17345756	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-0.811000	0.04500	-0.656000	0.05380	0.650000	0.86243	TTC		0.403	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		51	79	0	0	0	0	51	79				
DPY19L1	23333	broad.mit.edu	37	7	34997615	34997615	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:34997615G>A	ENST00000310974.4	-	11	1085	c.941C>T	c.(940-942)tCt>tTt	p.S314F	DPY19L1_ENST00000462134.2_Intron	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	314						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TACCAAAGAAGAAGCATAATA	0.289																																						uc003tem.3		NA																	0					0						c.(940-942)TCT>TTT		dpy-19-like 1							55.0	48.0	50.0					7																	34997615		1800	4056	5856	SO:0001583	missense	23333					integral to membrane		g.chr7:34997615G>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.941C>T	7.37:g.34997615G>A	ENSP00000308695:p.Ser314Phe						p.S314F	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN			11	1086	-			314			Helical; (Potential).		O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.941C>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515540	0.64634	.	.	ENSG00000173852	ENST00000310974	T	0.59224	0.28	5.22	4.34	0.51931	.	0.053288	0.85682	D	0.000000	T	0.58708	0.2141	M	0.75615	2.305	0.47441	D	0.999427	B	0.21520	0.057	B	0.27170	0.077	T	0.60244	-0.7301	10	0.52906	T	0.07	-15.0378	11.7859	0.52043	0.085:0.0:0.915:0.0	.	314	Q2PZI1	D19L1_HUMAN	F	314	ENSP00000308695:S314F	ENSP00000308695:S314F	S	-	2	0	DPY19L1	34964140	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.788000	0.75105	1.431000	0.47355	0.591000	0.81541	TCT		0.289	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			4	17	0	0	0	0	4	17				
NPC1L1	29881	broad.mit.edu	37	7	44555448	44555448	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:44555448G>A	ENST00000289547.4	-	19	3886	c.3831C>T	c.(3829-3831)ggC>ggT	p.G1277G	NPC1L1_ENST00000546276.1_Silent_p.G1204G|NPC1L1_ENST00000381160.3_Silent_p.G1250G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1277					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CATGCAGCAGGCCCAGCAGAG	0.577																																						uc003tlb.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3829-3831)GGC>GGT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						82.0	81.0	81.0					7																	44555448		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44555448G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3831C>T	7.37:g.44555448G>A						NPC1L1_uc003tlc.2_Silent_p.G1250G|NPC1L1_uc011kbw.1_Silent_p.G1204G|NPC1L1_uc003tla.2_Intron	p.G1277G	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			19	3887	-			1277			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3831C>T	CCDS5491.1																																																																																				0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		15	30	0	0	0	0	15	30				
COBL	23242	broad.mit.edu	37	7	51096582	51096582	+	Silent	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:51096582C>A	ENST00000265136.7	-	10	2376	c.2211G>T	c.(2209-2211)ggG>ggT	p.G737G	COBL_ENST00000395542.2_Silent_p.G819G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	737					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCACCAAGTTCCCCAGCTCGT	0.507																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(2209-2211)GGG>GGT		cordon-bleu homolog							97.0	82.0	87.0					7																	51096582		2203	4300	6503	SO:0001819	synonymous_variant	23242							g.chr7:51096582C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2211G>T	7.37:g.51096582C>A						COBL_uc003tps.2_Silent_p.G794G|COBL_uc011kcl.1_Silent_p.G737G|COBL_uc003tpp.3_Silent_p.G523G|COBL_uc003tpq.3_Silent_p.G678G|COBL_uc003tpo.3_Silent_p.G279G	p.G737G	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2396	-	Glioma(55;0.08)		737					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.2211G>T	CCDS34637.1																																																																																				0.507	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		20	41	1	0	0.00188189	0.00193087	20	41				
VKORC1L1	154807	broad.mit.edu	37	7	65419170	65419170	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65419170C>G	ENST00000360768.3	+	3	519	c.414C>G	c.(412-414)ttC>ttG	p.F138L	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.L102V	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	138					cellular response to oxidative stress (GO:0034599)|peptidyl-glutamic acid carboxylation (GO:0017187)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)	TGAAGGAGTTCTGCATCATCT	0.517																																						uc003tul.2		NA																	0					0						c.(412-414)TTC>TTG		vitamin K epoxide reductase complex, subunit	Menadione(DB00170)|Warfarin(DB00682)						205.0	152.0	170.0					7																	65419170		2203	4300	6503	SO:0001583	missense	154807					integral to membrane		g.chr7:65419170C>G		CCDS5529.1, CCDS64663.1	7q11.21	2013-10-07			ENSG00000196715	ENSG00000196715			21492	protein-coding gene	gene with protein product		608838				23928358	Standard	NM_001284342		Approved		uc003tul.3	Q8N0U8	OTTHUMG00000129449	ENST00000360768.3:c.414C>G	7.37:g.65419170C>G	ENSP00000353998:p.Phe138Leu					VKORC1L1_uc011kds.1_Missense_Mutation_p.L102V|VKORC1L1_uc003tum.1_5'Flank	p.F138L	NM_173517	NP_775788	Q8N0U8	VKORL_HUMAN			3	516	+		Lung NSC(55;0.197)	138			Helical; (Potential).		B4E222|E7ETM5|Q6AHW9|Q6TEK6	Missense_Mutation	SNP	ENST00000360768.3	37	c.414C>G	CCDS5529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.505768|2.505768	0.44558|0.44558	.|.	.|.	ENSG00000196715|ENSG00000196715	ENST00000360768|ENST00000434382	D|D	0.97553|0.96885	-4.43|-4.16	5.78|5.78	2.09|2.09	0.27110|0.27110	Vitamin K epoxide reductase (2);|.	0.099090|.	0.64402|.	D|.	0.000001|.	D|D	0.91891|0.91891	0.7433|0.7433	L|L	0.31294|0.31294	0.92|0.92	0.23180|0.23180	N|N	0.998162|0.998162	B|P	0.18968|0.42409	0.032|0.779	B|B	0.22152|0.39185	0.038|0.293	D|D	0.84483|0.84483	0.0606|0.0606	10|9	0.20519|0.66056	T|D	0.43|0.02	.|.	8.4329|8.4329	0.32769|0.32769	0.0:0.2985:0.0:0.7015|0.0:0.2985:0.0:0.7015	.|.	138|102	Q8N0U8|E7ETM5	VKORL_HUMAN|.	L|V	138|102	ENSP00000353998:F138L|ENSP00000403077:L102V	ENSP00000353998:F138L|ENSP00000403077:L102V	F|L	+|+	3|1	2|2	VKORC1L1|VKORC1L1	65056605|65056605	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.472000|0.472000	0.22116|0.22116	0.176000|0.176000	0.19873|0.19873	-0.469000|-0.469000	0.05056|0.05056	TTC|CTG		0.517	VKORC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251612.3	NM_173517		35	39	0	0	0	0	35	39				
GUSB	2990	broad.mit.edu	37	7	65439419	65439419	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:65439419G>A	ENST00000304895.4	-	8	1384	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Silent_p.F272F|GUSB_ENST00000345660.6_Silent_p.F367F	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	418					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AAACGTTGTTGAAGAACTGCC	0.632																																						uc003tun.2		NA																	0					0						c.(1252-1254)TTC>TTT		glucuronidase, beta precursor							90.0	84.0	86.0					7																	65439419		2203	4300	6503	SO:0001819	synonymous_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65439419G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1254C>T	7.37:g.65439419G>A						GUSB_uc011kdt.1_Silent_p.F272F	p.F418F	NM_000181	NP_000172	P08236	BGLR_HUMAN			8	1330	-			418					B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	c.1254C>T	CCDS5530.1																																																																																				0.632	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		35	47	0	0	0	0	35	47				
STYXL1	51657	broad.mit.edu	37	7	75630281	75630281	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:75630281G>T	ENST00000248600.1	-	8	1079	c.737C>A	c.(736-738)tCc>tAc	p.S246Y	STYXL1_ENST00000451157.1_Missense_Mutation_p.S246Y|STYXL1_ENST00000340062.5_Missense_Mutation_p.S150Y|STYXL1_ENST00000359697.3_Missense_Mutation_p.S246Y|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.S246Y	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	246	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						ACCTTGGGTGGAAAAGATCAG	0.567																																						uc003uej.3		NA																	0					0						c.(736-738)TCC>TAC		map kinase phosphatase-like protein MK-STYX							140.0	117.0	125.0					7																	75630281		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75630281G>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.737C>A	7.37:g.75630281G>T	ENSP00000248600:p.Ser246Tyr					STYXL1_uc003uef.2_Intron|STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_Intron|STYXL1_uc003ueh.2_Missense_Mutation_p.S108Y|STYXL1_uc003uek.3_Missense_Mutation_p.S150Y|STYXL1_uc003uel.2_Missense_Mutation_p.S246Y|STYXL1_uc003uem.2_Missense_Mutation_p.S246Y|STYXL1_uc010ldg.1_Intron|STYXL1_uc010ldh.1_Missense_Mutation_p.S246Y|STYXL1_uc003uen.1_Intron	p.S246Y	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			8	910	-			246			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.737C>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756735	0.49362	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000431581;ENST00000451157	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	4.72	4.72	0.59763	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.76744	0.4030	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.80623	-0.1300	9	0.87932	D	0	.	13.543	0.61686	0.0:0.0:1.0:0.0	.	246;150;246	C9J4H0;Q9Y6J8-4;Q9Y6J8	.;.;STYL1_HUMAN	Y	246;246;150;246;246	ENSP00000248600:S246Y;ENSP00000352726:S246Y;ENSP00000343383:S150Y;ENSP00000392221:S246Y;ENSP00000411812:S246Y	ENSP00000248600:S246Y	S	-	2	0	STYXL1	75468217	1.000000	0.71417	0.988000	0.46212	0.229000	0.25112	6.048000	0.71046	2.344000	0.79699	0.555000	0.69702	TCC		0.567	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		33	103	1	0	1.31e-17	1.44e-17	33	103				
PEX1	5189	broad.mit.edu	37	7	92131290	92131290	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:92131290C>G	ENST00000248633.4	-	14	2425	c.2330G>C	c.(2329-2331)gGc>gCc	p.G777A	PEX1_ENST00000428214.1_Missense_Mutation_p.G720A|PEX1_ENST00000438045.1_Missense_Mutation_p.G455A|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	777					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CACAAACCCGCCAGTTTCTTT	0.378																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2329-2331)GGC>GCC		peroxin1							207.0	224.0	218.0					7																	92131290		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92131290C>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2330G>C	7.37:g.92131290C>G	ENSP00000248633:p.Gly777Ala					PEX1_uc011khr.1_Missense_Mutation_p.G569A|PEX1_uc010ley.2_Missense_Mutation_p.G720A|PEX1_uc011khs.1_Missense_Mutation_p.G455A|PEX1_uc011kht.1_Intron	p.G777A	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		14	2426	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	777					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2330G>C	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724365	0.48728	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;T	0.81996	-1.56;-1.56;2.24	5.15	4.02	0.46733	.	0.047332	0.85682	D	0.000000	T	0.60805	0.2297	N	0.01505	-0.83	0.80722	D	1	B;B;B	0.18863	0.02;0.011;0.031	B;B;B	0.21360	0.014;0.009;0.034	T	0.58399	-0.7643	10	0.56958	D	0.05	-19.5231	10.2066	0.43116	0.0:0.0793:0.0:0.9207	.	455;569;777	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	A	455;777;720	ENSP00000410438:G455A;ENSP00000248633:G777A;ENSP00000394413:G720A	ENSP00000248633:G777A	G	-	2	0	PEX1	91969226	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	5.092000	0.64511	1.004000	0.39156	-0.367000	0.07326	GGC		0.378	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		121	191	0	0	0	0	121	191				
SGCE	8910	broad.mit.edu	37	7	94230021	94230021	+	Nonsense_Mutation	SNP	G	G	T	rs559353446		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:94230021G>T	ENST00000265735.7	-	7	1084	c.974C>A	c.(973-975)tCg>tAg	p.S325*	SGCE_ENST00000415788.2_Nonsense_Mutation_p.S361*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.S325*|SGCE_ENST00000428696.2_Nonsense_Mutation_p.S325*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.S284*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.S325*	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	325	Cys-rich.				cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433																																						uc003unl.2		NA																	0				ovary(1)	1	GRCh37	CD032135	SGCE	D		c.(973-975)TCG>TAG		sarcoglycan, epsilon isoform 2							71.0	70.0	71.0					7																	94230021		2203	4300	6503	SO:0001587	stop_gained	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94230021G>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.974C>A	7.37:g.94230021G>T	ENSP00000265735:p.Ser325*					SGCE_uc003unk.2_Nonsense_Mutation_p.S157*|SGCE_uc003unm.2_Nonsense_Mutation_p.S325*|SGCE_uc003unn.2_Nonsense_Mutation_p.S325*|SGCE_uc011kic.1_Nonsense_Mutation_p.S284*|SGCE_uc011kid.1_Nonsense_Mutation_p.S361*	p.S325*	NM_003919	NP_003910	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	1085	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		325			Cys-rich.|Helical; (Potential).		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Nonsense_Mutation	SNP	ENST00000265735.7	37	c.974C>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070404	0.93950	.	.	ENSG00000127990	ENST00000522045;ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	.	.	.	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-21.1995	17.3515	0.87326	0.0:0.0:1.0:0.0	.	.	.	.	X	11;325;325;284;325;325;361	.	ENSP00000265735:S325X	S	-	2	0	SGCE	94067957	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.267000	0.72546	2.264000	0.75181	0.467000	0.42956	TCG		0.433	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			19	31	1	0	4.35e-09	4.64e-09	19	31				
ZNF3	7551	broad.mit.edu	37	7	99674971	99674971	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99674971G>C	ENST00000424697.1	-	3	316	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	ZNF3_ENST00000413658.2_Missense_Mutation_p.Q4E|ZNF3_ENST00000303915.6_Missense_Mutation_p.Q4E|ZNF3_ENST00000299667.4_Missense_Mutation_p.Q4E	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	4					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGATCAGCCTGAGTTTCCATG	0.488																																						uc003usq.2		NA																	0				ovary(1)	1						c.(10-12)CAG>GAG		zinc finger protein 3 isoform 2							146.0	148.0	148.0					7																	99674971		1981	4177	6158	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99674971G>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.10C>G	7.37:g.99674971G>C	ENSP00000415358:p.Gln4Glu					ZNF3_uc003usp.2_Missense_Mutation_p.Q4E|ZNF3_uc003usr.2_Missense_Mutation_p.Q4E|ZNF3_uc010lgj.2_Intron|ZNF3_uc003uss.2_Intron|ZNF3_uc003ust.3_Missense_Mutation_p.Q4E	p.Q4E	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		3	317	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	4					D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.10C>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564471	0.65651	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000449785;ENST00000428683;ENST00000415068	T;T;T;T;T;T;T	0.07327	4.47;3.2;3.2;3.2;4.96;4.96;4.74	5.53	5.53	0.82687	.	0.000000	0.40144	N	0.001162	T	0.11239	0.0274	L	0.43152	1.355	0.32942	D	0.518537	P;P	0.48764	0.915;0.835	P;B	0.47299	0.543;0.435	T	0.08046	-1.0741	10	0.14656	T	0.56	-18.6863	14.8344	0.70172	0.0:0.0:1.0:0.0	.	4;4	P17036;P17036-2	ZNF3_HUMAN;.	E	4	ENSP00000399951:Q4E;ENSP00000415358:Q4E;ENSP00000306372:Q4E;ENSP00000299667:Q4E;ENSP00000405970:Q4E;ENSP00000388042:Q4E;ENSP00000416686:Q4E	ENSP00000299667:Q4E	Q	-	1	0	ZNF3	99512907	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.076000	0.57591	2.882000	0.98803	0.655000	0.94253	CAG		0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		50	88	0	0	0	0	50	88				
C7orf43	55262	broad.mit.edu	37	7	99754719	99754719	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99754719G>A	ENST00000316937.3	-	5	1028	c.843C>T	c.(841-843)gtC>gtT	p.V281V	C7orf43_ENST00000419841.1_Silent_p.V49V|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000457641.1_Silent_p.V12V|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	281										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACCTCACCAGACATTGTCCA	0.572																																						uc003utr.2		NA																	0					0						c.(841-843)GTC>GTT		hypothetical protein LOC55262							130.0	117.0	121.0					7																	99754719		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99754719G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.843C>T	7.37:g.99754719G>A						C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.V49V|C7orf43_uc003uts.2_Silent_p.V12V	p.V281V	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			5	1023	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		281					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.843C>T	CCDS5687.1																																																																																				0.572	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		21	66	0	0	0	0	21	66				
C7orf43	55262	broad.mit.edu	37	7	99755503	99755503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:99755503G>A	ENST00000316937.3	-	2	655	c.470C>T	c.(469-471)tCa>tTa	p.S157L	C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000457641.1_5'UTR|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	157										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTATCCAGTGAAACGGTGAG	0.537																																						uc003utr.2		NA																	0					0						c.(469-471)TCA>TTA		hypothetical protein LOC55262							97.0	83.0	88.0					7																	99755503		2203	4300	6503	SO:0001583	missense	55262							g.chr7:99755503G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.470C>T	7.37:g.99755503G>A	ENSP00000324741:p.Ser157Leu					C7orf43_uc010lgo.2_5'Flank|C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003uts.2_5'UTR	p.S157L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			2	650	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		157					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.470C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074826	0.94000	.	.	ENSG00000146826	ENST00000316937	T	0.48836	0.8	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000003	T	0.57695	0.2071	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	D	0.72625	0.978	T	0.60944	-0.7162	10	0.87932	D	0	-7.0284	17.2304	0.86983	0.0:0.0:1.0:0.0	.	157	Q8WVR3	CG043_HUMAN	L	157	ENSP00000324741:S157L	ENSP00000324741:S157L	S	-	2	0	C7orf43	99593439	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.283000	0.72646	2.667000	0.90743	0.462000	0.41574	TCA		0.537	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		11	29	0	0	0	0	11	29				
ACHE	43	broad.mit.edu	37	7	100488803	100488803	+	Silent	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100488803C>T	ENST00000412389.1	-	3	1865	c.1710G>A	c.(1708-1710)ttG>ttA	p.L570L	ACHE_ENST00000428317.1_Silent_p.L570L|ACHE_ENST00000411582.1_Silent_p.L570L|ACHE_ENST00000241069.5_Silent_p.L570L|ACHE_ENST00000302913.4_Silent_p.L570L|ACHE_ENST00000419336.2_Silent_p.L482L|UFSP1_ENST00000388761.2_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	570					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TGGCGCTGAGCAATTTGGGGA	0.701																																						uc003uxd.2		NA																	0				skin(2)	2						c.(1708-1710)TTG>TTA		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						6.0	8.0	7.0					7																	100488803		2112	4146	6258	SO:0001819	synonymous_variant	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100488803C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1710G>A	7.37:g.100488803C>T						UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.L570L|ACHE_uc003uxf.2_Silent_p.L570L|ACHE_uc003uxg.2_Silent_p.L570L|ACHE_uc003uxh.2_Silent_p.L482L|ACHE_uc003uxi.2_Silent_p.L570L	p.L570L	NM_000665	NP_000656	P22303	ACES_HUMAN			3	1866	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		570					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	ENST00000412389.1	37	c.1710G>A	CCDS5709.1																																																																																				0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		8	9	0	0	0	0	8	9				
PRKRIP1	79706	broad.mit.edu	37	7	102045060	102045060	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:102045060G>C	ENST00000496391.1	+	8	1632	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	PRKRIP1_ENST00000462601.1_Missense_Mutation_p.E51Q|MIR548O_ENST00000408583.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.E70Q|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.E108Q			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	108	Required for RNA-binding. {ECO:0000250}.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						ATTGGATGCAGAGTTTCAGAA	0.483											OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003uzh.2		NA																	0				ovary(1)	1						c.(322-324)GAG>CAG		PRKR interacting protein 1 (IL11 inducible)							99.0	108.0	105.0					7																	102045060		2203	4300	6503	SO:0001583	missense	79706					nucleolus		g.chr7:102045060G>C	AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.322G>C	7.37:g.102045060G>C	ENSP00000419270:p.Glu108Gln		OREG0018229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1363	PRKRIP1_uc003uzf.2_Missense_Mutation_p.E57Q|PRKRIP1_uc003uzg.2_Missense_Mutation_p.E57Q|PRKRIP1_uc011kkq.1_Missense_Mutation_p.E51Q|PRKRIP1_uc011kkr.1_Missense_Mutation_p.E108Q	p.E108Q	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN			4	377	+			108			Potential.|Required for RNA-binding (By similarity).		B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	ENST00000496391.1	37	c.322G>C	CCDS34714.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871654	0.91587	.	.	ENSG00000128563	ENST00000496391;ENST00000462601;ENST00000397912;ENST00000354783	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	6.06	6.06	0.98353	.	0.307856	0.38837	N	0.001542	T	0.67505	0.2900	M	0.64404	1.975	0.52501	D	0.999957	D;D;P	0.89917	1.0;0.989;0.891	D;P;P	0.75484	0.986;0.904;0.771	T	0.65676	-0.6110	10	0.54805	T	0.06	-34.1742	18.1147	0.89549	0.0:0.0:1.0:0.0	.	70;51;108	B4DGM2;E9PC43;Q9H875	.;.;PKRI1_HUMAN	Q	108;51;108;70	ENSP00000419270:E108Q;ENSP00000420136:E51Q;ENSP00000381010:E108Q;ENSP00000346837:E70Q	ENSP00000346837:E70Q	E	+	1	0	PRKRIP1	101832065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.059000	0.76684	2.882000	0.98803	0.655000	0.94253	GAG		0.483	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349489.1	NM_024653		59	102	0	0	0	0	59	102				
LAMB4	22798	broad.mit.edu	37	7	107678026	107678026	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:107678026G>C	ENST00000388781.3	-	30	4569	c.4486C>G	c.(4486-4488)Cca>Gca	p.P1496A	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1496A|LAMB4_ENST00000483484.1_5'Flank|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1496A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1496	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGTCTTCTGGAGGCACGTTT	0.388																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(4486-4488)CCA>GCA		laminin, beta 4 precursor							166.0	154.0	158.0					7																	107678026		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107678026G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4486C>G	7.37:g.107678026G>C	ENSP00000373433:p.Pro1496Ala					LAMB4_uc003vey.2_Missense_Mutation_p.P1496A|LAMB4_uc010ljp.1_Missense_Mutation_p.P465A	p.P1496A	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			30	4570	-			1496			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4486C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996462	0.54147	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.34472	1.36;1.36;1.6;1.38	4.85	3.0	0.34707	.	0.292176	0.24381	N	0.039013	T	0.44767	0.1309	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.868;0.998	T	0.34004	-0.9846	10	0.13853	T	0.58	.	7.6334	0.28253	0.0919:0.1735:0.7345:0.0	.	1496;1496	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	A	1496;1496;522;1496	ENSP00000205386:P1496A;ENSP00000373433:P1496A;ENSP00000416562:P522A;ENSP00000373432:P1496A	ENSP00000205386:P1496A	P	-	1	0	LAMB4	107465262	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	2.810000	0.47979	0.721000	0.32231	0.655000	0.94253	CCA		0.388	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		31	71	0	0	0	0	31	71				
WNT2	7472	broad.mit.edu	37	7	116918349	116918349	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:116918349T>G	ENST00000265441.3	-	5	1242	c.943A>C	c.(943-945)Acc>Ccc	p.T315P		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	315					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACATGGGAGGTGTCGTAGCCT	0.597																																						uc003viz.2		NA																	0				breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7						c.(943-945)ACC>CCC		wingless-type MMTV integration site family							108.0	76.0	87.0					7																	116918349		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116918349T>G	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.943A>C	7.37:g.116918349T>G	ENSP00000265441:p.Thr315Pro					WNT2_uc003vja.2_Missense_Mutation_p.T219P	p.T315P	NM_003391	NP_003382	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	5	1243	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		315					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.943A>C	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634905	0.87760	.	.	ENSG00000105989	ENST00000265441	T	0.77750	-1.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	M	0.92833	3.35	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92807	0.6261	10	0.87932	D	0	.	15.4625	0.75369	0.0:0.0:0.0:1.0	.	315;315	A4D0V1;P09544	.;WNT2_HUMAN	P	315	ENSP00000265441:T315P	ENSP00000265441:T315P	T	-	1	0	WNT2	116705585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.186000	0.72026	2.244000	0.73946	0.533000	0.62120	ACC		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		10	34	0	0	0	0	10	34				
FSCN3	29999	broad.mit.edu	37	7	127240257	127240257	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:127240257G>A	ENST00000265825.5	+	6	1520	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E	FSCN3_ENST00000420086.2_Silent_p.G298G	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	434						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCACAGGGGGGATCCTTCTGG	0.562																																						uc003vmd.1		NA																	0				ovary(1)	1						c.(1300-1302)GGA>GAA		fascin 3							57.0	53.0	54.0					7																	127240257		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240257G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1301G>A	7.37:g.127240257G>A	ENSP00000265825:p.Gly434Glu					FSCN3_uc011koh.1_Silent_p.G298G|FSCN3_uc010llc.1_Silent_p.G432G	p.G434E	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			6	1520	+			434					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1301G>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497161	0.85069	.	.	ENSG00000106328	ENST00000265825	T	0.57436	0.4	5.74	5.74	0.90152	Actin cross-linking (1);	0.000000	0.64402	D	0.000013	T	0.64271	0.2583	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65689	-0.6107	10	0.72032	D	0.01	-11.5356	15.4296	0.75081	0.0:0.0:1.0:0.0	.	434	Q9NQT6	FSCN3_HUMAN	E	434	ENSP00000265825:G434E	ENSP00000265825:G434E	G	+	2	0	FSCN3	127027493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.302000	0.65733	2.695000	0.91970	0.655000	0.94253	GGA		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		21	41	0	0	0	0	21	41				
NUP205	23165	broad.mit.edu	37	7	135292103	135292103	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:135292103C>G	ENST00000285968.6	+	22	3205	c.3179C>G	c.(3178-3180)gCt>gGt	p.A1060G		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1060					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTCAGCTGGCTGAGCTATGT	0.498																																						uc003vsw.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3178-3180)GCT>GGT		nucleoporin 205kDa							80.0	77.0	78.0					7																	135292103		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135292103C>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3179C>G	7.37:g.135292103C>G	ENSP00000285968:p.Ala1060Gly						p.A1060G	NM_015135	NP_055950	Q92621	NU205_HUMAN			22	3210	+			1060					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3179C>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517328	0.85495	.	.	ENSG00000155561	ENST00000285968	T	0.34275	1.37	5.27	4.37	0.52481	.	0.048019	0.85682	N	0.000000	T	0.40145	0.1105	L	0.41236	1.265	0.80722	D	1	P	0.46142	0.873	P	0.49683	0.619	T	0.10154	-1.0642	10	0.26408	T	0.33	-32.2322	16.0816	0.81007	0.0:0.8657:0.1343:0.0	.	1060	Q92621	NU205_HUMAN	G	1060	ENSP00000285968:A1060G	ENSP00000285968:A1060G	A	+	2	0	NUP205	134942643	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	4.922000	0.63404	1.303000	0.44873	0.561000	0.74099	GCT		0.498	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			24	19	0	0	0	0	24	19				
EPHB6	2051	broad.mit.edu	37	7	142561964	142561964	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:142561964G>A	ENST00000392957.2	+	7	1193	c.406G>A	c.(406-408)Gag>Aag	p.E136K	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.E136K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	136	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCGTCAGGCTGAGGAGCCCGA	0.622																																						uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(406-408)GAG>AAG		ephrin receptor EphB6 precursor							57.0	59.0	58.0					7																	142561964		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561964G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.406G>A	7.37:g.142561964G>A	ENSP00000376684:p.Glu136Lys					EPHB6_uc011ksu.1_Missense_Mutation_p.E136K|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	p.E136K	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1193	+	Melanoma(164;0.059)		136			Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.406G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664260	0.88251	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03772	3.81;3.81	5.6	5.6	0.85130	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.148667	0.31199	N	0.008075	T	0.08044	0.0201	L	0.52573	1.65	0.80722	D	1	P	0.36837	0.571	B	0.36504	0.226	T	0.04635	-1.0937	10	0.87932	D	0	.	16.7751	0.85549	0.0:0.0:1.0:0.0	.	136	O15197	EPHB6_HUMAN	K	136	ENSP00000376684:E136K;ENSP00000410789:E136K	ENSP00000376684:E136K	E	+	1	0	EPHB6	142272086	1.000000	0.71417	0.943000	0.38184	0.979000	0.70002	7.256000	0.78350	2.640000	0.89533	0.655000	0.94253	GAG		0.622	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			31	50	0	0	0	0	31	50				
EPHA1	2041	broad.mit.edu	37	7	143104760	143104760	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143104760C>T	ENST00000275815.3	-	2	180	c.94G>A	c.(94-96)Gac>Aac	p.D32N	EPHA1-AS1_ENST00000429289.1_RNA|EPHA1-AS1_ENST00000421648.1_RNA	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	32	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGCTTGTGTCCATCAGAGTA	0.562																																						uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(94-96)GAC>AAC		ephrin receptor EphA1 precursor							151.0	164.0	159.0					7																	143104760		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143104760C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.94G>A	7.37:g.143104760C>T	ENSP00000275815:p.Asp32Asn					uc003wda.2_5'Flank	p.D32N	NM_005232	NP_005223	P21709	EPHA1_HUMAN			2	181	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	32			Extracellular (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.94G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413442	0.83449	.	.	ENSG00000146904	ENST00000275815	T	0.12879	2.64	5.43	2.66	0.31614	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.193666	0.36002	N	0.002847	T	0.24547	0.0595	L	0.45352	1.415	0.41624	D	0.988988	D	0.89917	1.0	D	0.87578	0.998	T	0.01162	-1.1432	10	0.87932	D	0	.	6.9354	0.24463	0.0:0.6956:0.1449:0.1595	.	32	P21709	EPHA1_HUMAN	N	32	ENSP00000275815:D32N	ENSP00000275815:D32N	D	-	1	0	EPHA1	142814882	1.000000	0.71417	0.952000	0.39060	0.837000	0.47467	4.757000	0.62213	0.420000	0.25954	0.655000	0.94253	GAC		0.562	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			99	149	0	0	0	0	99	149				
OR2A2	442361	broad.mit.edu	37	7	143807003	143807003	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:143807003G>C	ENST00000408979.2	+	1	397	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGCTGTTACAGAGTGCCTGAT	0.443																																						uc011ktz.1		NA																	0				skin(2)	2						c.(328-330)GAG>CAG		olfactory receptor, family 2, subfamily A,							206.0	190.0	196.0					7																	143807003		2074	4244	6318	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807003G>C		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.328G>C	7.37:g.143807003G>C	ENSP00000386209:p.Glu110Gln						p.E110Q	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	328	+	Melanoma(164;0.0783)		110			Helical; Name=3; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.328G>C	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014118	0.35511	.	.	ENSG00000221989	ENST00000408979	T	0.00414	7.52	3.61	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31772	U	0.007090	T	0.01124	0.0037	M	0.87269	2.87	0.09310	N	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.28073	-1.0055	10	0.62326	D	0.03	-17.1666	8.9048	0.35517	0.1158:0.0:0.8842:0.0	.	110	Q6IF42	OR2A2_HUMAN	Q	110	ENSP00000386209:E110Q	ENSP00000386209:E110Q	E	+	1	0	OR2A2	143437936	0.868000	0.29978	0.903000	0.35520	0.602000	0.36980	2.285000	0.43487	0.849000	0.35215	0.609000	0.83330	GAG		0.443	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			57	126	0	0	0	0	57	126				
MSRA	4482	broad.mit.edu	37	8	10102704	10102704	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:10102704C>T	ENST00000317173.4	+	3	551	c.302C>T	c.(301-303)tCa>tTa	p.S101L	MSRA_ENST00000518255.1_Missense_Mutation_p.S101L|MSRA_ENST00000528246.1_Missense_Mutation_p.S35L|MSRA_ENST00000382490.5_Missense_Mutation_p.S58L|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000521209.2_Missense_Mutation_p.S35L	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	101					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTATACTTCAAATCCTACT	0.408																																					NSCLC(88;1378 1469 30580 49103 52286)	uc003wsx.2		NA																	0					0						c.(301-303)TCA>TTA		methionine sulfoxide reductase A isoform a	L-Methionine(DB00134)						100.0	103.0	102.0					8																	10102704		2203	4300	6503	SO:0001583	missense	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10102704C>T	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.302C>T	8.37:g.10102704C>T	ENSP00000313921:p.Ser101Leu					MSRA_uc011kwx.1_Intron|MSRA_uc011kwy.1_Missense_Mutation_p.S58L|MSRA_uc003wsz.2_Missense_Mutation_p.S58L|MSRA_uc003wsy.2_Missense_Mutation_p.S35L	p.S101L	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN			3	499	+		Myeloproliferative disorder(644;0.178)	101					E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	37	c.302C>T	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459678	0.43736	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	2.82	0.32997	.	0.726112	0.13740	N	0.366023	T	0.28267	0.0698	N	0.25380	0.74	0.09310	N	1	B;B;B	0.25235	0.001;0.031;0.121	B;B;B	0.30943	0.004;0.029;0.122	T	0.27706	-1.0066	8	.	.	.	-13.9084	6.2285	0.20722	0.1349:0.6529:0.1381:0.0741	.	58;58;101	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	L	101;101;35;35;35;58	.	.	S	+	2	0	MSRA	10140114	0.233000	0.23772	0.018000	0.16275	0.834000	0.47266	3.774000	0.55341	0.302000	0.22762	0.655000	0.94253	TCA		0.408	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		34	60	0	0	0	0	34	60				
CTSB	1508	broad.mit.edu	37	8	11706668	11706668	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:11706668G>A	ENST00000353047.6	-	5	586	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CTSB_ENST00000531089.1_Silent_p.F111F|CTSB_ENST00000345125.3_Silent_p.F111F|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000530640.2_Silent_p.F111F|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000453527.2_Silent_p.F111F|CTSB_ENST00000533455.1_Silent_p.F111F|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000534510.1_Silent_p.F111F|CTSB_ENST00000434271.1_Silent_p.F111F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	111					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCACAGCCCCGAAGGCCTGCA	0.657																																						uc003wum.2		NA																	0					0						c.(331-333)TTC>TTT		cathepsin B preproprotein							43.0	34.0	37.0					8																	11706668		2203	4300	6503	SO:0001819	synonymous_variant	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11706668G>A	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.333C>T	8.37:g.11706668G>A						CTSB_uc003wul.2_5'Flank|CTSB_uc011kxl.1_Silent_p.F32F|CTSB_uc003wun.2_Silent_p.F111F|CTSB_uc003wuo.2_Silent_p.F111F|CTSB_uc003wup.2_Silent_p.F111F|CTSB_uc003wuq.2_Silent_p.F111F|CTSB_uc010lsc.2_Intron|CTSB_uc003wur.2_Silent_p.F111F|CTSB_uc003wus.1_Silent_p.F111F|CTSB_uc003wut.1_Silent_p.F111F|CTSB_uc003wuu.2_5'UTR	p.F111F	NM_147780	NP_680090	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	7	657	-	all_epithelial(15;0.205)		111					B3KQR5|B3KRR5|Q503A6|Q96D87	Silent	SNP	ENST00000353047.6	37	c.333C>T	CCDS5986.1																																																																																				0.657	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780		7	27	0	0	0	0	7	27				
EPHX2	2053	broad.mit.edu	37	8	27394310	27394310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27394310G>A	ENST00000521400.1	+	13	1610	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	EPHX2_ENST00000518379.1_Missense_Mutation_p.E362K|EPHX2_ENST00000521780.1_Missense_Mutation_p.E328K|EPHX2_ENST00000380476.3_Missense_Mutation_p.E341K|EPHX2_ENST00000517536.1_Missense_Mutation_p.E211K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	394	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GGGAGTGGCTGAGGCTGAACT	0.512																																						uc003xfu.2		NA																	0				ovary(1)	1						c.(1180-1182)GAG>AAG		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						96.0	97.0	97.0					8																	27394310		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27394310G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1180G>A	8.37:g.27394310G>A	ENSP00000430269:p.Glu394Lys					EPHX2_uc010lut.1_Missense_Mutation_p.E394K|EPHX2_uc010luu.2_Missense_Mutation_p.E362K|EPHX2_uc010luv.2_Missense_Mutation_p.E328K|EPHX2_uc003xfv.2_Missense_Mutation_p.E341K|EPHX2_uc010luw.2_Missense_Mutation_p.E328K	p.E394K	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	13	1261	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	394			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.1180G>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696050	0.88830	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.51	5.51	0.81932	Alpha/beta hydrolase fold-1 (1);	0.049374	0.85682	D	0.000000	T	0.24084	0.0583	M	0.84326	2.69	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.995;0.998	T	0.00348	-1.1799	10	0.87932	D	0	-3.782	14.9151	0.70789	0.0:0.0:1.0:0.0	.	362;394;394	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	K	394;211;328;341;341;362	ENSP00000430269:E394K;ENSP00000428875:E211K;ENSP00000430302:E328K;ENSP00000369843:E341K;ENSP00000427956:E362K	ENSP00000369843:E341K	E	+	1	0	EPHX2	27450227	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	5.680000	0.68168	2.588000	0.87417	0.585000	0.79938	GAG		0.512	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			30	68	0	0	0	0	30	68				
NUGGC	389643	broad.mit.edu	37	8	27898624	27898624	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27898624C>T	ENST00000413272.2	-	13	1697	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	NUGGC_ENST00000341513.6_Missense_Mutation_p.E519K	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	519					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CTGACCCCTTCTTGCAGAGGC	0.567																																						uc003xgm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1555-1557)GAA>AAA		speckled-like pattern in the germinal center							45.0	48.0	47.0					8																	27898624		2070	4222	6292	SO:0001583	missense	389643					nucleus	GTP binding|GTPase activity	g.chr8:27898624C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1555G>A	8.37:g.27898624C>T	ENSP00000408697:p.Glu519Lys						p.E519K	NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)	13	1698	-		Ovarian(32;0.0218)	519					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1555G>A	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669325	0.29693	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.36520	1.25;1.25	5.65	4.76	0.60689	.	0.255725	0.39210	N	0.001428	T	0.23014	0.0556	L	0.29908	0.895	0.27465	N	0.953034	B	0.25235	0.121	B	0.22880	0.042	T	0.18116	-1.0347	10	0.11182	T	0.66	-3.8713	9.7001	0.40180	0.0:0.9033:0.0:0.0967	.	519	Q68CJ6	SLIP_HUMAN	K	519	ENSP00000408697:E519K;ENSP00000345031:E519K	ENSP00000345031:E519K	E	-	1	0	C8orf80	27954543	0.183000	0.23186	0.691000	0.30163	0.013000	0.08279	0.876000	0.28092	1.344000	0.45657	0.650000	0.86243	GAA		0.567	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		9	5	0	0	0	0	9	5				
ELP3	55140	broad.mit.edu	37	8	27967950	27967950	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:27967950G>C	ENST00000256398.8	+	6	834	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	ELP3_ENST00000521015.1_Missense_Mutation_p.E139Q|ELP3_ENST00000537665.1_Missense_Mutation_p.E34Q|ELP3_ENST00000524103.1_Missense_Mutation_p.E81Q|ELP3_ENST00000542181.1_Missense_Mutation_p.E24Q|ELP3_ENST00000380353.4_Missense_Mutation_p.E61Q|ELP3_ENST00000523760.1_3'UTR	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	153					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACACCGAATAGAACAGGTACA	0.343																																						uc003xgo.3		NA																	0					0						c.(457-459)GAA>CAA		elongation protein 3 homolog							119.0	116.0	117.0					8																	27967950		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27967950G>C		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.457G>C	8.37:g.27967950G>C	ENSP00000256398:p.Glu153Gln					ELP3_uc003xgn.3_Missense_Mutation_p.E138Q|ELP3_uc011laq.1_Missense_Mutation_p.E81Q|ELP3_uc011lar.1_Missense_Mutation_p.E61Q|ELP3_uc011las.1_Missense_Mutation_p.E34Q|ELP3_uc011lat.1_Missense_Mutation_p.E34Q	p.E153Q	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	6	605	+		Ovarian(32;0.0218)	153					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.457G>C	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462778	0.63513	.	.	ENSG00000134014	ENST00000521015;ENST00000521570;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.74	4.74	0.60224	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.051614	0.85682	D	0.000000	T	0.76828	0.4042	L	0.42487	1.325	0.80722	D	1	B;B	0.18610	0.005;0.029	B;B	0.31337	0.022;0.128	T	0.72164	-0.4373	10	0.32370	T	0.25	-22.5088	15.264	0.73646	0.0:0.0:1.0:0.0	.	34;153	B4DE19;Q9H9T3	.;ELP3_HUMAN	Q	139;139;153;24;81;34;61	ENSP00000428449:E139Q;ENSP00000256398:E153Q;ENSP00000439242:E24Q;ENSP00000429180:E81Q;ENSP00000445558:E34Q;ENSP00000369711:E61Q	ENSP00000256398:E153Q	E	+	1	0	ELP3	28023869	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.043000	0.93799	2.453000	0.82957	0.655000	0.94253	GAA		0.343	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		31	59	0	0	0	0	31	59				
C8orf4	56892	broad.mit.edu	37	8	40011187	40011187	+	Missense_Mutation	SNP	G	G	A	rs10353		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:40011187G>A	ENST00000315792.3	+	1	199	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_020130.4	NP_064515	Q9NR00	CH004_HUMAN	chromosome 8 open reading frame 4	46					apoptotic process (GO:0006915)					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CACAGACCAAGAATCACTAGA	0.488																																						uc003xnq.1		NA																	0				ovary(1)	1						c.(136-138)GAA>AAA		thyroid cancer-1							117.0	106.0	110.0					8																	40011187		2203	4300	6503	SO:0001583	missense	56892				apoptosis			g.chr8:40011187G>A	AF268037	CCDS6115.1	8p11.2	2014-07-11			ENSG00000176907	ENSG00000176907			1357	protein-coding gene	gene with protein product	"""human thyroid cancer 1"""	607702				11056052, 24937306	Standard	NM_020130		Approved	TC-1, hTC-1	uc003xnq.2	Q9NR00	OTTHUMG00000164045	ENST00000315792.3:c.136G>A	8.37:g.40011187G>A	ENSP00000319914:p.Glu46Lys						p.E46K	NM_020130	NP_064515	Q9NR00	CH004_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	1	199	+	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	46						Missense_Mutation	SNP	ENST00000315792.3	37	c.136G>A	CCDS6115.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257797	0.39896	.	.	ENSG00000176907	ENST00000315792	T	0.30714	1.52	6.08	6.08	0.98989	.	0.141687	0.64402	D	0.000006	T	0.29524	0.0736	L	0.36672	1.1	0.54753	D	0.999988	B	0.30361	0.277	B	0.26770	0.073	T	0.03384	-1.1042	10	0.62326	D	0.03	-8.5476	19.6529	0.95825	0.0:0.0:1.0:0.0	.	46	Q9NR00	CH004_HUMAN	K	46	ENSP00000319914:E46K	ENSP00000319914:E46K	E	+	1	0	C8orf4	40130344	1.000000	0.71417	0.411000	0.26484	0.260000	0.26232	7.042000	0.76565	2.890000	0.99128	0.655000	0.94253	GAA		0.488	C8orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376943.1	NM_020130		29	46	0	0	0	0	29	46				
MCM4	4173	broad.mit.edu	37	8	48885504	48885504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:48885504G>C	ENST00000262105.2	+	13	2225	c.2016G>C	c.(2014-2016)caG>caC	p.Q672H	MCM4_ENST00000523944.1_Missense_Mutation_p.Q672H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	672					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.Q672H(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTACTACCAGAGCGAGGAGC	0.552																																						uc003xqk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2014-2016)CAG>CAC		minichromosome maintenance complex component 4							90.0	79.0	83.0					8																	48885504		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48885504G>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2016G>C	8.37:g.48885504G>C	ENSP00000262105:p.Gln672His					MCM4_uc003xql.1_Missense_Mutation_p.Q672H|MCM4_uc011ldi.1_Missense_Mutation_p.Q659H	p.Q672H	NM_182746	NP_877423	P33991	MCM4_HUMAN			14	2111	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	672					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2016G>C	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086341	0.55861	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.06449	3.3;3.3	5.62	3.82	0.43975	.	0.049848	0.85682	D	0.000000	T	0.07638	0.0192	N	0.17800	0.525	0.80722	D	1	B;B	0.33904	0.431;0.431	P;P	0.45660	0.489;0.489	T	0.34950	-0.9808	10	0.72032	D	0.01	-10.9449	8.0382	0.30506	0.3118:0.0:0.6882:0.0	.	672;672	B3KMX0;P33991	.;MCM4_HUMAN	H	672;672;659;632	ENSP00000430194:Q672H;ENSP00000262105:Q672H	ENSP00000262105:Q672H	Q	+	3	2	MCM4	49048057	1.000000	0.71417	0.977000	0.42913	0.882000	0.50991	2.454000	0.44979	0.717000	0.32145	0.563000	0.77884	CAG		0.552	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		14	28	0	0	0	0	14	28				
HEY1	23462	broad.mit.edu	37	8	80677568	80677568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:80677568G>A	ENST00000354724.3	-	5	969	c.770C>T	c.(769-771)tCa>tTa	p.S257L	HEY1_ENST00000337919.5_Missense_Mutation_p.S261L|HEY1_ENST00000523976.1_Missense_Mutation_p.S167L|HEY1_ENST00000435063.2_5'UTR|RP11-27N21.3_ENST00000607172.1_lincRNA	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	257					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAGGCCACTGAGGAGAGCAG	0.652			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ybm.2		NA		Dom	yes		8	8q21	23462		hairy/enhancer-of-split related with YRPW motif 1			M					0				lung(3)	3						c.(769-771)TCA>TTA		hairy/enhancer-of-split related with YRPW motif							24.0	18.0	20.0					8																	80677568		2185	4280	6465	SO:0001583	missense	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80677568G>A	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.770C>T	8.37:g.80677568G>A	ENSP00000346761:p.Ser257Leu		OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	HEY1_uc010lzq.2_Missense_Mutation_p.S138L|HEY1_uc003ybl.2_Missense_Mutation_p.S261L	p.S257L	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		5	970	-	all_lung(9;5.1e-05)		257					B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Missense_Mutation	SNP	ENST00000354724.3	37	c.770C>T	CCDS6225.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415601	0.83449	.	.	ENSG00000164683	ENST00000354724;ENST00000542205;ENST00000337919;ENST00000523976	T;T;T	0.59906	0.23;0.24;0.81	5.53	5.53	0.82687	.	0.184592	0.48767	D	0.000171	T	0.74779	0.3761	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.85130	0.658;0.997	T	0.72887	-0.4156	10	0.41790	T	0.15	-3.3479	19.4608	0.94916	0.0:0.0:1.0:0.0	.	257;261	Q9Y5J3;Q9Y5J3-2	HEY1_HUMAN;.	L	257;261;261;167	ENSP00000346761:S257L;ENSP00000338272:S261L;ENSP00000429792:S167L	ENSP00000338272:S261L	S	-	2	0	HEY1	80840123	1.000000	0.71417	0.958000	0.39756	0.996000	0.88848	7.132000	0.77251	2.587000	0.87381	0.655000	0.94253	TCA		0.652	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		6	6	0	0	0	0	6	6				
ESRP1	54845	broad.mit.edu	37	8	95709092	95709092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95709092G>C	ENST00000433389.2	+	15	2174	c.1984G>C	c.(1984-1986)Gat>Cat	p.D662H	ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000358397.5_Missense_Mutation_p.D658H|ESRP1_ENST00000423620.2_Intron	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	662					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCAACCGAGGATGGACTTAT	0.388																																						uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1984-1986)GAT>CAT		RNA binding motif protein 35A isoform 1							134.0	116.0	122.0					8																	95709092		1863	4103	5966	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95709092G>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1984G>C	8.37:g.95709092G>C	ENSP00000405738:p.Asp662His					ESRP1_uc003ygr.3_Missense_Mutation_p.D658H|ESRP1_uc003ygs.3_Intron|ESRP1_uc003ygt.3_Intron|ESRP1_uc003ygu.3_Intron|ESRP1_uc003ygv.2_Intron|ESRP1_uc003ygw.2_Missense_Mutation_p.R451S	p.D662H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			15	2167	+			662					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1984G>C	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020833	0.75275	.	.	ENSG00000104413	ENST00000433389;ENST00000358397;ENST00000519505	T;T	0.13901	2.58;2.55	5.82	4.94	0.65067	.	0.045716	0.85682	D	0.000000	T	0.27559	0.0677	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.987;0.989	P;P	0.58873	0.847;0.717	T	0.00268	-1.1862	10	0.72032	D	0.01	-19.9842	11.5582	0.50761	0.1385:0.0:0.8615:0.0	.	658;662	Q6NXG1-3;Q6NXG1	.;ESRP1_HUMAN	H	662;658;477	ENSP00000405738:D662H;ENSP00000351168:D658H	ENSP00000351168:D658H	D	+	1	0	ESRP1	95778268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.782000	0.62396	2.765000	0.95021	0.650000	0.86243	GAT		0.388	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		3	10	0	0	0	0	3	10				
INTS8	55656	broad.mit.edu	37	8	95869113	95869113	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:95869113C>T	ENST00000523731.1	+	15	1994	c.1861C>T	c.(1861-1863)Cat>Tat	p.H621Y	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.H621Y	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	621					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TTTGGATATTCATACACACGA	0.488																																						uc003yhb.2		NA																	0					0						c.(1861-1863)CAT>TAT		integrator complex subunit 8							150.0	138.0	142.0					8																	95869113		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95869113C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1861C>T	8.37:g.95869113C>T	ENSP00000430338:p.His621Tyr					INTS8_uc003yha.1_Missense_Mutation_p.H621Y|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.H448Y	p.H621Y	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			15	1987	+	Breast(36;1.05e-06)		621					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1861C>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	2.856	-0.237328	0.05944	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.51	3.73	0.42828	.	0.378221	0.32687	N	0.005762	T	0.14141	0.0342	N	0.08118	0	0.23528	N	0.99749	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32929	-0.9888	9	0.02654	T	1	-13.5009	7.1023	0.25344	0.0:0.626:0.0:0.374	.	621;621	Q75QN2;Q75QN2-2	INT8_HUMAN;.	Y	621	.	ENSP00000343274:H621Y	H	+	1	0	INTS8	95938289	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	1.686000	0.37669	0.819000	0.34492	0.655000	0.94253	CAT		0.488	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		51	77	0	0	0	0	51	77				
EMC2	9694	broad.mit.edu	37	8	109462710	109462710	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:109462710G>A	ENST00000220853.3	+	3	243	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	70						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGGTCGGGATGACTTGGCATT	0.318																																						uc003ymw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(208-210)GAC>AAC		tetratricopeptide repeat domain 35							194.0	191.0	192.0					8																	109462710		2203	4300	6503	SO:0001583	missense	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109462710G>A	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.208G>A	8.37:g.109462710G>A	ENSP00000220853:p.Asp70Asn						p.D70N	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		3	243	+			70					Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.208G>A	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.080856|5.080856	0.94050|0.94050	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000524143;ENST00000220853|ENST00000519642	T|.	0.19806|.	2.12|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Tetratricopeptide-like helical (1);|.	0.046469|.	0.85682|.	D|.	0.000000|.	D|D	0.83732|0.83732	0.5318|0.5318	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	P|.	0.58013|.	0.831|.	D|D	0.83591|0.83591	0.0123|0.0123	10|5	0.45353|.	T|.	0.12|.	-5.691|-5.691	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	70|.	Q15006|.	TTC35_HUMAN|.	N|I	71;70|17	ENSP00000430122:D71N|.	ENSP00000220853:D70N|.	D|M	+|+	1|3	0|0	TTC35|TTC35	109531886|109531886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.152000|6.152000	0.71812|0.71812	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAC|ATG		0.318	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		34	63	0	0	0	0	34	63				
DERL1	79139	broad.mit.edu	37	8	124042888	124042888	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:124042888G>C	ENST00000259512.4	-	2	522	c.222C>G	c.(220-222)gtC>gtG	p.V74V	DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Silent_p.V74V|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	74					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AATATAAATTGACCAAATAAA	0.363																																						uc003ypl.2		NA																	0					0						c.(220-222)GTC>GTG		Der1-like domain family, member 1 isoform a							69.0	77.0	75.0					8																	124042888		2203	4300	6503	SO:0001819	synonymous_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124042888G>C	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.222C>G	8.37:g.124042888G>C						DERL1_uc003ypm.2_Silent_p.V74V|DERL1_uc011lif.1_Intron|DERL1_uc003ypn.2_Silent_p.V74V	p.V74V	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	508	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		74			Helical; Name=2; (Potential).		B3KW41|E9PH19	Silent	SNP	ENST00000259512.4	37	c.222C>G	CCDS6337.1																																																																																				0.363	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		32	71	0	0	0	0	32	71				
FER1L6	654463	broad.mit.edu	37	8	125078776	125078776	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:125078776G>A	ENST00000522917.1	+	27	3869	c.3663G>A	c.(3661-3663)ctG>ctA	p.L1221L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1221L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1221						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCTCCCTGAAGAAAGCCC	0.483																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3661-3663)CTG>CTA		fer-1-like 6							146.0	151.0	149.0					8																	125078776		1927	4119	6046	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125078776G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3663G>A	8.37:g.125078776G>A						uc003yqy.1_Intron	p.L1221L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		27	3869	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1221			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.3663G>A	CCDS43767.1																																																																																				0.483	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		9	158	0	0	0	0	9	158				
PHF20L1	51105	broad.mit.edu	37	8	133855066	133855066	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:133855066G>A	ENST00000395386.2	+	19	2993	c.2694G>A	c.(2692-2694)atG>atA	p.M898I	AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.M873I|PHF20L1_ENST00000220847.7_Missense_Mutation_p.M285I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	898							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATTCCACATGAGAAGTAAAA	0.383																																						uc003ytt.2		NA																	0				ovary(2)	2						c.(2692-2694)ATG>ATA		PHD finger protein 20-like 1 isoform 1							111.0	105.0	107.0					8																	133855066		1848	4113	5961	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133855066G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2694G>A	8.37:g.133855066G>A	ENSP00000378784:p.Met898Ile					PHF20L1_uc011lja.1_Missense_Mutation_p.M872I	p.M898I	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		19	3019	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		898					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2694G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	1.695	-0.503052	0.04261	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.28454	1.61;1.61	5.41	-0.125	0.13519	.	0.414784	0.17223	U	0.182277	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	10	0.28530	T	0.3	-22.6452	5.3343	0.15949	0.4051:0.1456:0.4492:0.0	.	873;898	F8W9L8;A8MW92	.;P20L1_HUMAN	I	898;285;873	ENSP00000378784:M898I;ENSP00000378788:M873I	ENSP00000220847:M285I	M	+	3	0	PHF20L1	133924248	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.615000	0.24329	0.273000	0.22049	0.650000	0.86243	ATG		0.383	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		34	78	0	0	0	0	34	78				
PSCA	8000	broad.mit.edu	37	8	143763453	143763453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:143763453G>A	ENST00000301258.4	+	3	331	c.248G>A	c.(247-249)tGc>tAc	p.C83Y		NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	92	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	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)					ACCGACTTGTGCAACGCCAGC	0.627																																						uc003ywu.2		NA																	0					0						c.(274-276)TGC>TAC		prostate stem cell antigen preproprotein							43.0	49.0	47.0					8																	143763453		2186	4277	6463	SO:0001583	missense	8000							g.chr8:143763453G>A	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.248G>A	8.37:g.143763453G>A	ENSP00000301258:p.Cys83Tyr					uc003ywt.1_5'Flank	p.C92Y	NM_005672	NP_005663	O43653	PSCA_HUMAN			3	330	+	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)		83					Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	c.275G>A	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146813	0.37923	.	.	ENSG00000167653	ENST00000301258	.	.	.	3.11	3.11	0.35812	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83007	-0.0174	9	0.87932	D	0	.	9.9548	0.41660	0.0:0.0:1.0:0.0	.	92	O43653	PSCA_HUMAN	Y	92	.	ENSP00000301258:C92Y	C	+	2	0	PSCA	143760455	1.000000	0.71417	0.998000	0.56505	0.160000	0.22226	3.524000	0.53495	2.036000	0.60181	0.563000	0.77884	TGC		0.627	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672		14	23	0	0	0	0	14	23				
ZNF707	286075	broad.mit.edu	37	8	144776267	144776267	+	Missense_Mutation	SNP	G	G	A	rs368360386		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144776267G>A	ENST00000532205.1	+	8	1582	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF707_ENST00000532158.1_Missense_Mutation_p.R228H|ZNF707_ENST00000418203.2_Missense_Mutation_p.R228H|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Missense_Mutation_p.R228H|ZNF707_ENST00000454097.1_Missense_Mutation_p.R228H			Q96C28	ZN707_HUMAN	zinc finger protein 707	228					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)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACCACACGCGCGAGAAGCCC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16764	0.0		0.0	False		,,,				2504	0.0					uc003yze.3		NA																	0				breast(1)	1						c.(682-684)CGC>CAC		zinc finger protein 707		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4207		0,3,2102	15.0	19.0	17.0		683,683,683	-2.0	0.0	8		17	0,8452		0,0,4226	no	missense,missense,missense	ZNF707	NM_001100598.1,NM_001100599.1,NM_173831.3	29,29,29	0,3,6328	AA,AG,GG		0.0,0.0713,0.0237	benign,benign,benign	228/372,228/372,228/372	144776267	3,12659	2105	4226	6331	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776267G>A	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.683G>A	8.37:g.144776267G>A	ENSP00000436212:p.Arg228His					ZNF707_uc010mfh.2_Missense_Mutation_p.R228H|ZNF707_uc010mfi.2_Missense_Mutation_p.R228H|ZNF707_uc003yzf.3_Missense_Mutation_p.R228H|ZNF707_uc003yzh.3_Missense_Mutation_p.R155H|ZNF707_uc011lkq.1_RNA	p.R228H	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	998	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		228					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.683G>A	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	G	2.453	-0.325892	0.05350	7.13E-4	0.0	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	2.99	-2.01	0.07410	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23249	0.0562	L	0.58354	1.805	0.09310	N	1	D;P	0.65815	0.995;0.942	P;B	0.53760	0.734;0.308	T	0.09530	-1.0670	8	.	.	.	-0.0611	6.335	0.21291	0.2932:0.1315:0.5754:0.0	.	153;228	B4DV46;Q96C28	.;ZN707_HUMAN	H	228	ENSP00000409029:R228H;ENSP00000351482:R228H;ENSP00000436250:R228H;ENSP00000436212:R228H;ENSP00000413215:R228H	.	R	+	2	0	ZNF707	144848255	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.739000	0.26173	-1.528000	0.01756	-2.578000	0.00169	CGC		0.667	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		11	14	0	0	0	0	11	14				
SCRIB	23513	broad.mit.edu	37	8	144877604	144877604	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:144877604C>G	ENST00000320476.3	-	25	3706	c.3700G>C	c.(3700-3702)Gag>Cag	p.E1234Q	SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000356994.2_Missense_Mutation_p.E1234Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.E1153Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1234					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTGGGCCCTCAGGGCTCAGC	0.677																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(3700-3702)GAG>CAG		scribble isoform b							28.0	29.0	28.0					8																	144877604		2201	4299	6500	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144877604C>G	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3700G>C	8.37:g.144877604C>G	ENSP00000322938:p.Glu1234Gln					SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.E1234Q	p.E1234Q	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		25	3707	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1234					Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.3700G>C	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.61|16.61	3.170387|3.170387	0.57584|0.57584	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539|ENST00000526832	T;T;T|.	0.44881|.	1.15;1.12;0.91|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|.	.|.	.|.	.|.	T|.	0.70413|.	0.3221|.	M|M	0.62723|0.62723	1.935|1.935	0.50632|0.50632	D|D	0.99988|0.99988	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.975;0.998|.	T|.	0.70241|.	-0.4926|.	9|.	0.66056|.	D|.	0.02|.	.|.	14.7366|14.7366	0.69419|0.69419	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1234;1234|.	Q14160;Q14160-3|.	SCRIB_HUMAN;.|.	Q|S	1234;1234;1153;603|229	ENSP00000349486:E1234Q;ENSP00000322938:E1234Q;ENSP00000366756:E1153Q|.	ENSP00000322938:E1234Q|.	E|X	-|-	1|2	0|2	SCRIB|SCRIB	144949592|144949592	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.146000|0.146000	0.21551|0.21551	5.185000|5.185000	0.65076|0.65076	2.139000|2.139000	0.66308|0.66308	0.555000|0.555000	0.69702|0.69702	GAG|TGA		0.677	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		4	10	0	0	0	0	4	10				
COMMD5	28991	broad.mit.edu	37	8	146076069	146076069	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr8:146076069C>G	ENST00000305103.3	-	2	907	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	COMMD5_ENST00000402718.3_Missense_Mutation_p.E219Q|COMMD5_ENST00000450361.2_Missense_Mutation_p.E219Q|AF235103.1_ENST00000578937.1_RNA	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	219						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGTCTGCGCTCACACCTCTTC	0.582																																						uc003zem.2		NA																	0				ovary(1)	1						c.(655-657)GAG>CAG		COMM domain containing 5							95.0	64.0	74.0					8																	146076069		2203	4300	6503	SO:0001583	missense	28991					nucleus	protein binding	g.chr8:146076069C>G	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.655G>C	8.37:g.146076069C>G	ENSP00000304544:p.Glu219Gln					COMMD5_uc003zel.1_RNA|COMMD5_uc003zen.2_Missense_Mutation_p.E219Q|COMMD5_uc003zeo.3_Missense_Mutation_p.E219Q|COMMD5_uc010mgf.2_Missense_Mutation_p.E219Q	p.E219Q	NM_001081004	NP_001074473	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	786	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		219					D3DWN7|Q9NVN6|Q9UHX5	Missense_Mutation	SNP	ENST00000305103.3	37	c.655G>C	CCDS6436.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770031	0.31320	.	.	ENSG00000170619	ENST00000402718;ENST00000450361;ENST00000305103	T;T;T	0.30981	1.51;1.51;1.51	4.31	2.33	0.28932	.	0.269951	0.33691	N	0.004647	T	0.24005	0.0581	L	0.44542	1.39	0.20873	N	0.999835	B	0.15719	0.014	B	0.10450	0.005	T	0.16867	-1.0388	10	0.35671	T	0.21	-15.5283	10.1686	0.42895	0.0:0.6019:0.3981:0.0	.	219	Q9GZQ3	COMD5_HUMAN	Q	219	ENSP00000385793:E219Q;ENSP00000394331:E219Q;ENSP00000304544:E219Q	ENSP00000304544:E219Q	E	-	1	0	COMMD5	146046873	0.039000	0.19947	0.996000	0.52242	0.974000	0.67602	0.307000	0.19296	1.126000	0.42016	0.557000	0.71058	GAG		0.582	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		10	20	0	0	0	0	10	20				
ADAMTSL1	92949	broad.mit.edu	37	9	18777191	18777191	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:18777191G>A	ENST00000380548.4	+	19	3303	c.2964G>A	c.(2962-2964)ccG>ccA	p.P988P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	988						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGGCGGCCCGAAGGAGGCCC	0.652																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2962-2964)CCG>CCA		ADAMTS-like 1 isoform 4 precursor							24.0	28.0	27.0					9																	18777191		1881	4090	5971	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777191G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2964G>A	9.37:g.18777191G>A							p.P988P	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3091	+			988					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2964G>A	CCDS47954.1																																																																																				0.652	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			12	16	0	0	0	0	12	16				
TOPORS	10210	broad.mit.edu	37	9	32541770	32541770	+	Missense_Mutation	SNP	G	G	A	rs142671355		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32541770G>A	ENST00000360538.2	-	3	2869	c.2753C>T	c.(2752-2754)tCt>tTt	p.S918F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S853F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	918					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTTTACTTCAGAATCCTTATC	0.378																																						uc003zrb.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2752-2754)TCT>TTT		topoisomerase I binding, arginine/serine-rich							203.0	188.0	193.0					9																	32541770		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541770G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2753C>T	9.37:g.32541770G>A	ENSP00000353735:p.Ser918Phe					TOPORS_uc003zrc.2_Missense_Mutation_p.S851F	p.S918F	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2920	-			918					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2753C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949184	0.34377	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.16743	2.32;2.33	5.81	3.97	0.46021	.	0.441688	0.19536	N	0.111915	T	0.10637	0.0260	N	0.14661	0.345	0.30005	N	0.81571	B	0.06786	0.001	B	0.06405	0.002	T	0.08432	-1.0722	10	0.59425	D	0.04	-3.6754	9.9038	0.41364	0.0725:0.2622:0.6653:0.0	.	918	Q9NS56	TOPRS_HUMAN	F	918;853	ENSP00000353735:S918F;ENSP00000369187:S853F	ENSP00000353735:S918F	S	-	2	0	TOPORS	32531770	0.315000	0.24571	0.984000	0.44739	0.890000	0.51754	1.432000	0.34936	0.799000	0.34018	0.650000	0.86243	TCT		0.378	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		65	44	0	0	0	0	65	44				
TAF1L	138474	broad.mit.edu	37	9	32630255	32630255	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:32630255C>A	ENST00000242310.4	-	1	5412	c.5323G>T	c.(5323-5325)Gat>Tat	p.D1775Y		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1775					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCCAGCATCTTCCTCATCA	0.453																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5323-5325)GAT>TAT		TBP-associated factor RNA polymerase 1-like							284.0	242.0	256.0					9																	32630255		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630255C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5323G>T	9.37:g.32630255C>A	ENSP00000418379:p.Asp1775Tyr						p.D1775Y	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5413	-			1775					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5323G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015825	0.35606	.	.	ENSG00000122728	ENST00000242310	T	0.11712	2.75	0.479	0.479	0.16796	.	0.000000	0.64402	D	0.000001	T	0.18923	0.0454	L	0.38175	1.15	0.32519	N	0.536442	D	0.89917	1.0	D	0.87578	0.998	T	0.09684	-1.0663	9	0.72032	D	0.01	.	.	.	.	.	1775	Q8IZX4	TAF1L_HUMAN	Y	1775	ENSP00000418379:D1775Y	ENSP00000418379:D1775Y	D	-	1	0	TAF1L	32620255	1.000000	0.71417	0.995000	0.50966	0.348000	0.29142	0.712000	0.25779	0.507000	0.28148	0.195000	0.17529	GAT		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			48	47	1	0	2.15e-31	2.4e-31	48	47				
CCDC107	203260	broad.mit.edu	37	9	35660595	35660595	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:35660595G>C	ENST00000426546.2	+	4	427	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000378407.3_Missense_Mutation_p.E121Q|CCDC107_ENST00000378409.3_Missense_Mutation_p.E121Q|ARHGEF39_ENST00000343259.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|RMRP_ENST00000602361.1_lincRNA|ARHGEF39_ENST00000490970.1_5'Flank|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_Missense_Mutation_p.E121Q|CCDC107_ENST00000378406.1_Missense_Mutation_p.E121Q	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	121						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCAGACAGAGCAGCACCT	0.527																																						uc011lox.1		NA																	0					0						c.(361-363)GAG>CAG		coiled-coil domain containing 107 precursor							77.0	81.0	80.0					9																	35660595		2203	4300	6503	SO:0001583	missense	203260					integral to membrane		g.chr9:35660595G>C	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.361G>C	9.37:g.35660595G>C	ENSP00000414964:p.Glu121Gln					RMRP_uc003zxh.1_5'Flank|CCDC107_uc011loy.1_Missense_Mutation_p.E121Q|CCDC107_uc003zxj.2_Missense_Mutation_p.E121Q|CCDC107_uc003zxk.2_3'UTR|C9orf100_uc003zxl.2_RNA|C9orf100_uc003zxm.1_3'UTR	p.E121Q	NM_174923	NP_777583	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	427	+	all_epithelial(49;0.217)		121			Potential.		A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Missense_Mutation	SNP	ENST00000426546.2	37	c.361G>C	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365860	0.82463	.	.	ENSG00000159884	ENST00000378407;ENST00000378406;ENST00000426546;ENST00000327351;ENST00000378409	T;T;T;T;T	0.59502	0.26;0.26;0.72;0.26;0.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.72054	-0.4406	10	0.87932	D	0	-28.289	14.3029	0.66364	0.0:0.0:1.0:0.0	.	121;121;121	F8W8S5;Q8WV48;Q8WV48-2	.;CC107_HUMAN;.	Q	121	ENSP00000367662:E121Q;ENSP00000367661:E121Q;ENSP00000414964:E121Q;ENSP00000330327:E121Q;ENSP00000367665:E121Q	ENSP00000330327:E121Q	E	+	1	0	CCDC107	35650595	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.950000	0.49081	2.761000	0.94854	0.655000	0.94253	GAG		0.527	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		23	44	0	0	0	0	23	44				
GLIPR2	152007	broad.mit.edu	37	9	36162499	36162499	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:36162499G>A	ENST00000377960.4	+	5	479	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.V123I|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	149				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019). {ECO:0000305}.	positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CGAAGAAAACGTCCTGCCGCC	0.537																																						uc003zyz.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(445-447)GTC>ATC		GLI pathogenesis-related 2							95.0	85.0	89.0					9																	36162499		2203	4300	6503	SO:0001583	missense	152007					extracellular region|Golgi membrane		g.chr9:36162499G>A	AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.445G>A	9.37:g.36162499G>A	ENSP00000367196:p.Val149Ile					GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron	p.V149I	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN			5	479	+			149	TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).				Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	ENST00000377960.4	37	c.445G>A	CCDS6598.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935378	0.92458	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.64991	-0.13;1.78	5.84	4.0	0.46444	CAP domain (1);	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	M	0.88775	2.98	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.69491	-0.5131	10	0.87932	D	0	-15.6699	10.9586	0.47372	0.156:0.0:0.844:0.0	.	149	Q9H4G4	GAPR1_HUMAN	I	123;149	ENSP00000367195:V123I;ENSP00000367196:V149I	ENSP00000367195:V123I	V	+	1	0	GLIPR2	36152499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.255000	0.78338	1.472000	0.48140	0.655000	0.94253	GTC		0.537	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052414.1	NM_022343		29	22	0	0	0	0	29	22				
ZNF658	26149	broad.mit.edu	37	9	40772752	40772752	+	Silent	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:40772752G>C	ENST00000602553.1	-	5	2817	c.2523C>G	c.(2521-2523)ctC>ctG	p.L841L	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.L841L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	841					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGTGCACAGAGGTGTGTTC	0.433																																						uc004abs.2		NA																	0				ovary(1)	1						c.(2521-2523)CTC>CTG		zinc finger protein 658							23.0	22.0	23.0					9																	40772752		2200	4279	6479	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772752G>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2523C>G	9.37:g.40772752G>C						ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.L841L	p.L841L	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2675	-			841			C2H2-type 17.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.2523C>G	CCDS35023.1																																																																																				0.433	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		15	66	0	0	0	0	15	66				
ZNF169	169841	broad.mit.edu	37	9	97062208	97062208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:97062208C>A	ENST00000395395.2	+	5	458	c.368C>A	c.(367-369)tCa>tAa	p.S123*	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	123					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(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TTCCCAAGCTCATCTGCAGGA	0.507																																						uc004aum.1		NA																	0				ovary(2)	2						c.(367-369)TCA>TAA		zinc finger protein 169							72.0	68.0	69.0					9																	97062208		2203	4300	6503	SO:0001587	stop_gained	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062208C>A	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.368C>A	9.37:g.97062208C>A	ENSP00000378792:p.Ser123*						p.S123*	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	473	+		Acute lymphoblastic leukemia(62;0.136)	123					A2AGP5|A8K127|Q6PI28	Nonsense_Mutation	SNP	ENST00000395395.2	37	c.368C>A	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101469	0.37048	.	.	ENSG00000175787	ENST00000395395	.	.	.	2.73	1.82	0.25136	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	5.6047	0.17373	0.0:0.8447:0.0:0.1553	.	.	.	.	X	123	.	ENSP00000378792:S123X	S	+	2	0	ZNF169	96102029	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.091000	0.15046	0.730000	0.32425	-0.199000	0.12753	TCA		0.507	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		27	22	1	0	1.13e-08	1.2e-08	27	22				
ZNF462	58499	broad.mit.edu	37	9	109687761	109687761	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:109687761C>G	ENST00000277225.5	+	3	1857	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.S523*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	523					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGAGAGCTCAAGCATCAAT	0.532																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(1567-1569)TCA>TGA		zinc finger protein 462							102.0	89.0	93.0					9																	109687761		2203	4300	6503	SO:0001587	stop_gained	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687761C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1568C>G	9.37:g.109687761C>G	ENSP00000277225:p.Ser523*					ZNF462_uc010mto.2_Nonsense_Mutation_p.S371*|ZNF462_uc004bda.2_Nonsense_Mutation_p.S371*	p.S523*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	1857	+			523					Q5T0T4|Q8N408	Nonsense_Mutation	SNP	ENST00000277225.5	37	c.1568C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947100	0.92593	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	.	.	.	5.21	4.31	0.51392	.	0.730351	0.13270	N	0.400613	.	.	.	.	.	.	0.28264	N	0.924695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3864	0.32503	0.0:0.7104:0.2023:0.0873	.	.	.	.	X	523	.	.	S	+	2	0	ZNF462	108727582	0.156000	0.22821	0.014000	0.15608	0.103000	0.19146	3.492000	0.53259	1.330000	0.45394	0.561000	0.74099	TCA		0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		18	17	0	0	0	0	18	17				
C5	727	broad.mit.edu	37	9	123808549	123808549	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:123808549G>C	ENST00000223642.1	-	2	207	c.178C>G	c.(178-180)Cct>Gct	p.P60A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	60					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTTTTATCAGGATAACTTTTA	0.313																																						uc004bkv.2		NA																	0				ovary(2)	2						c.(178-180)CCT>GCT		complement component 5 preproprotein	Eculizumab(DB01257)						65.0	70.0	68.0					9																	123808549		2203	4296	6499	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123808549G>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.178C>G	9.37:g.123808549G>C	ENSP00000223642:p.Pro60Ala					C5_uc010mvm.1_Missense_Mutation_p.P60A|C5_uc010mvn.1_Missense_Mutation_p.P60A	p.P60A	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	2	208	-			60					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.178C>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418435	0.42918	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.34667	1.35	5.86	5.86	0.93980	.	0.114163	0.64402	D	0.000012	T	0.52092	0.1713	L	0.59912	1.85	0.47905	D	0.999543	P;D	0.89917	0.927;1.0	B;D	0.91635	0.282;0.999	T	0.43475	-0.9389	10	0.02654	T	1	.	16.8965	0.86102	0.0:0.0:1.0:0.0	.	131;60	Q59GS8;P01031	.;CO5_HUMAN	A	60;131	ENSP00000223642:P60A	ENSP00000223642:P60A	P	-	1	0	C5	122848370	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.280000	0.72626	2.778000	0.95560	0.655000	0.94253	CCT		0.313	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		30	21	0	0	0	0	30	21				
DPP7	29952	broad.mit.edu	37	9	140007428	140007428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr9:140007428G>A	ENST00000371579.2	-	7	851	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	283						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCAGGGAGGGGACCCAGGAAG	0.667																																						uc004clh.2		NA																	0					0						c.(847-849)CCC>TCC		dipeptidyl peptidase 7 preproprotein							32.0	36.0	35.0					9																	140007428		2202	4300	6502	SO:0001583	missense	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140007428G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.847C>T	9.37:g.140007428G>A	ENSP00000360635:p.Pro283Ser						p.P283S	NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	7	877	-	all_cancers(76;0.0926)		283					A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	c.847C>T	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	G	5.552	0.286690	0.10513	.	.	ENSG00000176978	ENST00000371579	T	0.13538	2.58	4.88	3.99	0.46301	.	0.598969	0.17009	N	0.190584	T	0.09818	0.0241	L	0.33668	1.02	0.09310	N	1	B	0.18610	0.029	B	0.25405	0.06	T	0.29212	-1.0019	10	0.30854	T	0.27	-9.4783	4.0116	0.09624	0.0896:0.1583:0.5887:0.1634	.	283	Q9UHL4	DPP2_HUMAN	S	283	ENSP00000360635:P283S	ENSP00000360635:P283S	P	-	1	0	DPP7	139127249	0.002000	0.14202	0.001000	0.08648	0.475000	0.33008	1.287000	0.33284	1.075000	0.40932	0.456000	0.33151	CCC		0.667	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		30	12	0	0	0	0	30	12				
ARHGAP6	395	broad.mit.edu	37	X	11204461	11204461	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:11204461G>C	ENST00000337414.4	-	5	2040	c.1168C>G	c.(1168-1170)Caa>Gaa	p.Q390E	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q215E|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q422E|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q199E|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q187E|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q390E|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q187E	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	390					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTTTTACTTTGAGCCTCAGCA	0.453																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(1168-1170)CAA>GAA		Rho GTPase activating protein 6 isoform 1							163.0	144.0	151.0					X																	11204461		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204461G>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1168C>G	X.37:g.11204461G>C	ENSP00000338967:p.Gln390Glu					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q390E|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q187E|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q210E|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q212E|ARHGAP6_uc011mif.1_Missense_Mutation_p.Q187E	p.Q390E	NM_013427	NP_038286	O43182	RHG06_HUMAN			5	2041	-			390					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1168C>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907758	0.17833	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.20332	2.08;2.11;2.11;2.11;2.08;2.1;2.13;2.11	5.51	4.62	0.57501	.	0.124954	0.35870	N	0.002922	T	0.08447	0.0210	N	0.02802	-0.49	0.36168	D	0.848593	B;B;B;B;B	0.16166	0.0;0.001;0.016;0.012;0.012	B;B;B;B;B	0.14023	0.0;0.002;0.01;0.01;0.01	T	0.12477	-1.0546	10	0.02654	T	1	.	15.522	0.75874	0.0:0.1342:0.8658:0.0	.	199;187;390;390;390	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	E	215;187;187;390;226;390;199;422	ENSP00000438135:Q215E;ENSP00000370112:Q187E;ENSP00000302312:Q187E;ENSP00000338967:Q390E;ENSP00000370093:Q226E;ENSP00000370094:Q390E;ENSP00000389394:Q199E;ENSP00000370108:Q422E	ENSP00000302312:Q187E	Q	-	1	0	ARHGAP6	11114382	0.989000	0.36119	0.556000	0.28293	0.873000	0.50193	3.559000	0.53756	2.315000	0.78130	0.600000	0.82982	CAA		0.453	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		89	32	0	0	0	0	89	32				
ATP6AP2	10159	broad.mit.edu	37	X	40456555	40456555	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40456555G>C	ENST00000378438.4	+	4	513	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000486558.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.E43Q|ATP6AP2_ENST00000535777.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	119					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						CTTATTTTCTGAGGAAACTCC	0.338																																						uc004det.2		NA																	0					0						c.(355-357)GAG>CAG		ATPase, H+ transporting, lysosomal accessory							124.0	111.0	116.0					X																	40456555		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40456555G>C	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.355G>C	X.37:g.40456555G>C	ENSP00000367697:p.Glu119Gln					ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.E43Q|ATP6AP2_uc011mkm.1_Intron|ATP6AP2_uc011mkn.1_Intron|ATP6AP2_uc004deu.1_5'Flank	p.E119Q	NM_005765	NP_005756	O75787	RENR_HUMAN			4	457	+			119			Extracellular (Potential).		B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.355G>C	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533289	0.64972	.	.	ENSG00000182220	ENST00000378438;ENST00000544975;ENST00000538655	T;T	0.35048	1.4;1.33	5.04	5.04	0.67666	.	0.045663	0.85682	D	0.000000	T	0.35480	0.0933	L	0.52011	1.625	0.53688	D	0.999975	B	0.27380	0.177	B	0.21151	0.033	T	0.14727	-1.0462	10	0.45353	T	0.12	-19.7514	17.7934	0.88562	0.0:0.0:1.0:0.0	.	119	O75787	RENR_HUMAN	Q	119;43;119	ENSP00000367697:E119Q;ENSP00000440459:E43Q	ENSP00000367697:E119Q	E	+	1	0	ATP6AP2	40341499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.220000	0.72140	0.506000	0.49869	GAG		0.338	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		33	19	0	0	0	0	33	19				
CXorf38	159013	broad.mit.edu	37	X	40496291	40496291	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:40496291C>G	ENST00000327877.5	-	4	615	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	CXorf38_ENST00000378426.1_Missense_Mutation_p.E78Q|CXorf38_ENST00000440784.2_Missense_Mutation_p.E112Q|CXorf38_ENST00000378421.1_Missense_Mutation_p.E78Q	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	197										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCCACAATCTCTGGGATGTTC	0.368																																						uc004dew.2		NA																	0				ovary(1)	1						c.(589-591)GAG>CAG		hypothetical protein LOC159013							77.0	73.0	74.0					X																	40496291		2202	4300	6502	SO:0001583	missense	159013							g.chrX:40496291C>G	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.589G>C	X.37:g.40496291C>G	ENSP00000330488:p.Glu197Gln					CXorf38_uc011mko.1_Missense_Mutation_p.E112Q|CXorf38_uc004dev.1_Missense_Mutation_p.E78Q|CXorf38_uc010nhd.2_RNA	p.E197Q	NM_144970	NP_659407	Q8TB03	CX038_HUMAN			4	594	-			197					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.589G>C	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191558	0.58017	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421;ENST00000440784	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.95	4.95	0.65309	.	0.242758	0.35151	N	0.003408	T	0.59459	0.2195	L	0.60455	1.87	0.80722	D	1	B;D	0.55385	0.354;0.971	B;P	0.55455	0.38;0.776	T	0.62923	-0.6751	10	0.59425	D	0.04	-6.8498	16.0048	0.80354	0.0:1.0:0.0:0.0	.	112;197	E7EN46;Q8TB03	.;CX038_HUMAN	Q	78;197;78;112	ENSP00000367683:E78Q;ENSP00000330488:E197Q;ENSP00000367677:E78Q;ENSP00000400019:E112Q	ENSP00000330488:E197Q	E	-	1	0	CXorf38	40381235	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	4.568000	0.60857	2.294000	0.77228	0.422000	0.28245	GAG		0.368	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		30	11	0	0	0	0	30	11				
HUWE1	10075	broad.mit.edu	37	X	53654387	53654387	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:53654387C>T	ENST00000342160.3	-	16	1920	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	HUWE1_ENST00000218328.8_Missense_Mutation_p.G488E|HUWE1_ENST00000262854.6_Missense_Mutation_p.G488E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	488					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATTTCCTCTCCTTCTTGTGT	0.378																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(1462-1464)GGA>GAA		HECT, UBA and WWE domain containing 1							187.0	156.0	166.0					X																	53654387		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53654387C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1463G>A	X.37:g.53654387C>T	ENSP00000340648:p.Gly488Glu						p.G488E	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			17	1865	-			488					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1463G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	7.892	0.732576	0.15507	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	T;T;T	0.43688	0.94;0.94;0.94	4.79	4.79	0.61399	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.405130	0.23074	N	0.052226	T	0.34658	0.0905	L	0.49126	1.545	0.37299	D	0.908615	B	0.06786	0.001	B	0.08055	0.003	T	0.32771	-0.9894	10	0.02654	T	1	.	15.7725	0.78180	0.0:1.0:0.0:0.0	.	488	Q7Z6Z7	HUWE1_HUMAN	E	488;488;488;114	ENSP00000340648:G488E;ENSP00000262854:G488E;ENSP00000218328:G488E	ENSP00000218328:G488E	G	-	2	0	HUWE1	53671112	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.785000	0.68998	1.967000	0.57214	0.534000	0.68092	GGA		0.378	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		40	18	0	0	0	0	40	18				
ARR3	407	broad.mit.edu	37	X	69496305	69496305	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:69496305C>G	ENST00000307959.8	+	7	419	c.368C>G	c.(367-369)tCt>tGt	p.S123C	ARR3_ENST00000374495.3_Missense_Mutation_p.S123C	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	123					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CTGCCCTGTTCTGTGACACTG	0.478																																						uc004dyb.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(367-369)TCT>TGT		arrestin 3, retinal (X-arrestin)							107.0	87.0	94.0					X																	69496305		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69496305C>G		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.368C>G	X.37:g.69496305C>G	ENSP00000311538:p.Ser123Cys					ARR3_uc004dya.2_Missense_Mutation_p.S123C	p.S123C	NM_004312	NP_004303	P36575	ARRC_HUMAN			7	436	+			123					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.368C>G	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654706	0.67472	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.49139	0.79;0.79;0.79	4.32	3.45	0.39498	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.067235	0.64402	D	0.000007	T	0.75295	0.3830	H	0.95611	3.695	0.45307	D	0.998305	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79969	-0.1579	10	0.87932	D	0	-3.6971	10.8202	0.46599	0.0:0.9037:0.0:0.0963	.	123;123	P36575;P36575-2	ARRC_HUMAN;.	C	123;123;72;123	ENSP00000363619:S123C;ENSP00000425505:S72C;ENSP00000311538:S123C	ENSP00000311538:S123C	S	+	2	0	ARR3	69413030	0.998000	0.40836	0.989000	0.46669	0.977000	0.68977	4.000000	0.57039	0.748000	0.32831	0.600000	0.82982	TCT		0.478	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		27	8	0	0	0	0	27	8				
GPR112	139378	broad.mit.edu	37	X	135430993	135430993	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:135430993G>A	ENST00000394143.1	+	6	5419	c.5128G>A	c.(5128-5130)Gat>Aat	p.D1710N	GPR112_ENST00000394141.1_Missense_Mutation_p.D1505N|GPR112_ENST00000287534.4_Missense_Mutation_p.D1647N|GPR112_ENST00000370652.1_Missense_Mutation_p.D1710N|GPR112_ENST00000412101.1_Missense_Mutation_p.D1505N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1710					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACAAGCAGATGAGGCTAC	0.438																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5128-5130)GAT>AAT		G-protein coupled receptor 112							140.0	127.0	132.0					X																	135430993		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430993G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5128G>A	X.37:g.135430993G>A	ENSP00000377699:p.Asp1710Asn					GPR112_uc010nsb.1_Missense_Mutation_p.D1505N|GPR112_uc010nsc.1_Missense_Mutation_p.D1477N	p.D1710N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5419	+	Acute lymphoblastic leukemia(192;0.000127)		1710			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5128G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	11.04	1.521845	0.27211	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.63;1.49	3.42	-1.1	0.09872	.	.	.	.	.	T	0.10594	0.0259	N	0.11560	0.145	0.09310	N	1	B;B;B	0.23650	0.089;0.041;0.012	B;B;B	0.20184	0.028;0.018;0.002	T	0.31861	-0.9928	9	0.02654	T	1	.	3.4366	0.07448	0.3965:0.0:0.4125:0.191	.	1647;1505;1710	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	1710;1710;1505;1647;1505	ENSP00000377699:D1710N;ENSP00000359686:D1710N;ENSP00000416526:D1505N;ENSP00000287534:D1647N;ENSP00000377697:D1505N	ENSP00000287534:D1647N	D	+	1	0	GPR112	135258659	0.000000	0.05858	0.000000	0.03702	0.629000	0.37895	-0.085000	0.11250	-0.354000	0.08212	0.519000	0.50382	GAT		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			83	25	0	0	0	0	83	25				
MECP2	4204	broad.mit.edu	37	X	153296808	153296808	+	Silent	SNP	G	G	A	rs267608483|rs267608482|rs267608484		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153296808G>A	ENST00000303391.6	-	4	720	c.471C>T	c.(469-471)ttC>ttT	p.F157F	MECP2_ENST00000453960.2_Silent_p.F169F|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Intron	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	157	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTACCGTGAAGTCAAAAT	0.562																																						uc004fjv.2		NA																	0					0	GRCh37	CM003455	MECP2	M		c.(469-471)TTC>TTT		methyl CpG binding protein 2 isoform 1							72.0	69.0	70.0					X																	153296808		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296808G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.471C>T	X.37:g.153296808G>A						MECP2_uc004fjw.2_Silent_p.F169F	p.F157F	NM_004992	NP_004983	P51608	MECP2_HUMAN			4	697	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		157			MBD.		O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.471C>T	CCDS14741.1																																																																																				0.562	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		53	12	0	0	0	0	53	12				
FLNA	2316	broad.mit.edu	37	X	153580937	153580937	+	Silent	SNP	G	G	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chrX:153580937G>A	ENST00000369850.3	-	40	6722	c.6486C>T	c.(6484-6486)ctC>ctT	p.L2162L	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000422373.1_Silent_p.L2154L|FLNA_ENST00000369856.3_Silent_p.L295L|FLNA_ENST00000344736.4_Silent_p.L2122L|FLNA_ENST00000360319.4_Silent_p.L2154L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2162					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.L2162L(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTCAGGCTGAGGTCACAAT	0.637																																						uc004fkk.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(6)	6						c.(6484-6486)CTC>CTT		filamin A, alpha isoform 2							46.0	47.0	47.0					X																	153580937		1926	4119	6045	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580937G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6486C>T	X.37:g.153580937G>A						FLNA_uc004fki.2_Silent_p.L205L|FLNA_uc011mzn.1_Silent_p.L295L|FLNA_uc010nuu.1_Silent_p.L2154L	p.L2162L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			40	6735	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2162			Filamin 20.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6486C>T	CCDS48194.1																																																																																				0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			26	14	0	0	0	0	26	14				
HIVEP3	59269	broad.mit.edu	37	1	41976891	41976904	+	Frame_Shift_Del	DEL	TGAGCAGGGCCGGG	TGAGCAGGGCCGGG	-	rs369622740|rs200089353|rs147310017		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:41976891_41976904delTGAGCAGGGCCGGG	ENST00000372583.1	-	9	7324_7337	c.6439_6452delCCCGGCCCTGCTCA	c.(6439-6453)cccggccctgctcatfs	p.PGPAH2147fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.PGPAH2146fs|HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.PGPAH2146fs|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.PGPAH2147fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2147	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAGAGAGGATGAGCAGGGCCGGGTGAGCAGGAG	0.617																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6439-6453)CCCGGCCCTGCTCATfs		human immunodeficiency virus type I enhancer																																				SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976891_41976904delTGAGCAGGGCCGGG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6439_6452delCCCGGCCCTGCTCA	1.37:g.41976891_41976904delTGAGCAGGGCCGGG	ENSP00000361664:p.Pro2147fs					HIVEP3_uc001cha.3_Frame_Shift_Del_p.P2146fs|HIVEP3_uc001cgy.2_RNA	p.P2147fs	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			9	7652_7665	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2147_2151					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.6439_6452delCCCGGCCCTGCTCA	CCDS463.1																																																																																				0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	46	NA	NA	NA	NA	13	46	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109811620	109811621	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:109811620_109811621delTG	ENST00000271332.3	+	19	6682_6683	c.6621_6622delTG	c.(6619-6624)tctgtcfs	p.V2208fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2208					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCTGAGTCTGTCTTCAGAGG	0.599																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(6619-6624)TCTGTCfs		cadherin EGF LAG seven-pass G-type receptor 2																																				SO:0001589	frameshift_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109811620_109811621delTG	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6621_6622delTG	1.37:g.109811620_109811621delTG	ENSP00000271332:p.Val2208fs						p.S2207fs	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	19	6682_6683	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2207_2208			Extracellular (Potential).		Q5T2Y7|Q92566	Frame_Shift_Del	DEL	ENST00000271332.3	37	c.6621_6622delTG	CCDS796.1																																																																																				0.599	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		17	32	NA	NA	NA	NA	17	32	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232649840	232649841	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr1:232649840_232649841delTC	ENST00000366630.1	-	2	1603_1604	c.1245_1246delGA	c.(1243-1248)gagactfs	p.ET415fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Del_p.ET415fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	415					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCCCTCCAGTCTCATTTCTAA	0.52																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1243-1248)GAGACTfs		signal-induced proliferation-associated 1 like																																				SO:0001589	frameshift_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649840_232649841delTC	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1245_1246delGA	1.37:g.232649842_232649843delTC	ENSP00000355589:p.Glu415fs						p.E415fs	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1403_1404	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	415_416					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Frame_Shift_Del	DEL	ENST00000366630.1	37	c.1245_1246delGA	CCDS41474.1																																																																																				0.520	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		73	258	NA	NA	NA	NA	73	258	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19247323	19247332	+	Frame_Shift_Del	DEL	CTTGAGTTTT	CTTGAGTTTT	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr11:19247323_19247332delCTTGAGTTTT	ENST00000527884.1	-	11	2205_2214	c.1973_1982delAAAACTCAAG	c.(1972-1983)gaaaactcaagtfs	p.ENSS658fs	E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Del_p.ENSS658fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	658					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAAAGAGCACTTGAGTTTTCTTTACCAGA	0.49																																						uc001mpm.2		NA																	0				skin(1)	1						c.(1972-1983)GAAAACTCAAGTfs		E2F family member 8																																				SO:0001589	frameshift_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247323_19247332delCTTGAGTTTT		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1973_1982delAAAACTCAAG	11.37:g.19247323_19247332delCTTGAGTTTT	ENSP00000434199:p.Glu658fs					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.E658fs	p.E658fs	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			11	2495_2504	-			658_661					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Frame_Shift_Del	DEL	ENST00000527884.1	37	c.1973_1982delAAAACTCAAG	CCDS7849.1																																																																																				0.490	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		43	69	NA	NA	NA	NA	43	69	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	125834005	125834020	+	Frame_Shift_Del	DEL	GAGTCGAGGGATTGTG	GAGTCGAGGGATTGTG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr12:125834005_125834020delGAGTCGAGGGATTGTG	ENST00000299308.3	+	2	68_83	c.60_75delGAGTCGAGGGATTGTG	c.(58-75)gagagtcgagggattgtgfs	p.ESRGIV20fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGC	0.472																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(58-75)GAGAGTCGAGGGATTGTGfs		transmembrane protein 132B																																				SO:0001589	frameshift_variant	114795					integral to membrane		g.chr12:125834005_125834020delGAGTCGAGGGATTGTG	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.60_75delGAGTCGAGGGATTGTG	12.37:g.125834005_125834020delGAGTCGAGGGATTGTG	ENSP00000299308:p.Glu20fs						p.E20fs	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	68_83	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		20_25			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Frame_Shift_Del	DEL	ENST00000299308.3	37	c.60_75delGAGTCGAGGGATTGTG	CCDS41859.1																																																																																				0.472	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		21	120	NA	NA	NA	NA	21	120	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103592944	103592946	+	In_Frame_Del	DEL	GAA	GAA	-	rs142147196|rs368270988		TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr14:103592944_103592946delGAA	ENST00000560869.1	+	2	789_791	c.150_152delGAA	c.(148-153)gggaag>ggg	p.K54del	TNFAIP2_ENST00000333007.1_In_Frame_Del_p.K54del|TNFAIP2_ENST00000451723.2_5'Flank			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	54	Lys-rich (basic).				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TCACCAAAGGGAAGAAGAAGAAG	0.616																																						uc001ymm.1		NA																	0				central_nervous_system(1)	1						c.(148-153)GGGAAG>GGG		tumor necrosis factor, alpha-induced protein 2				48,4048		9,30,2009						2.3	1.0			16	128,7958		16,96,3931	no	coding	TNFAIP2	NM_006291.2		25,126,5940	A1A1,A1R,RR		1.583,1.1719,1.4448				176,12006				SO:0001651	inframe_deletion	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103592944_103592946delGAA		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.150_152delGAA	14.37:g.103592953_103592955delGAA	ENSP00000452634:p.Lys54del					TNFAIP2_uc010awo.1_In_Frame_Del_p.R13del|TNFAIP2_uc010txz.1_5'Flank	p.K54del	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		1	281_283	+		Melanoma(154;0.155)	54			Lys-rich (basic).		Q86VI0	In_Frame_Del	DEL	ENST00000560869.1	37	c.150_152delGAA	CCDS9979.1																																																																																				0.616	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ITGAE	3682	broad.mit.edu	37	17	3658507	3658507	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr17:3658507delC	ENST00000263087.4	-	12	1386	c.1288delG	c.(1288-1290)gcgfs	p.A430fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	430					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TAGAGCAACGCCCCTCCGGAC	0.716																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NA																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(1288-1290)GCGfs		integrin, alpha E precursor							4.0	5.0	5.0					17																	3658507		1986	3987	5973	SO:0001589	frameshift_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3658507delC	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1288delG	17.37:g.3658507delC	ENSP00000263087:p.Ala430fs						p.A430fs	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	12	1387	-			430			FG-GAP 3.|Extracellular (Potential).		Q17RS6|Q9NZU9	Frame_Shift_Del	DEL	ENST00000263087.4	37	c.1288delG	CCDS32531.1																																																																																				0.716	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		5	4	NA	NA	NA	NA	5	4	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42406794	42406803	+	Frame_Shift_Del	DEL	TGTGCCTTCG	TGTGCCTTCG	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:42406794_42406803delTGTGCCTTCG	ENST00000354532.3	+	17	1757_1766	c.1609_1618delTGTGCCTTCG	c.(1609-1620)tgtgccttcgtgfs	p.CAFV537fs	ARHGEF1_ENST00000337665.4_Frame_Shift_Del_p.CAFV552fs|ARHGEF1_ENST00000347545.4_Frame_Shift_Del_p.CAFV504fs|ARHGEF1_ENST00000599846.1_Frame_Shift_Del_p.CAFV593fs|ARHGEF1_ENST00000378152.4_Frame_Shift_Del_p.CAFV519fs	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	537	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCGGTTCTGTGCCTTCGTGCAGGTGAG	0.624																																						uc002orx.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1609-1620)TGTGCCTTCGTGfs		Rho guanine nucleotide exchange factor 1 isoform																																				SO:0001589	frameshift_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406794_42406803delTGTGCCTTCG	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1609_1618delTGTGCCTTCG	19.37:g.42406794_42406803delTGTGCCTTCG	ENSP00000346532:p.Cys537fs					ARHGEF1_uc002ory.2_Frame_Shift_Del_p.C504fs|ARHGEF1_uc002orz.2_Frame_Shift_Del_p.C375fs|ARHGEF1_uc002osa.2_Frame_Shift_Del_p.C552fs|ARHGEF1_uc002osb.2_Frame_Shift_Del_p.C519fs|ARHGEF1_uc002osc.2_Frame_Shift_Del_p.C291fs|ARHGEF1_uc002osd.2_Frame_Shift_Del_p.C196fs|ARHGEF1_uc002ose.2_5'Flank	p.C537fs	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	17	1718_1727	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	537_540			DH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Frame_Shift_Del	DEL	ENST00000354532.3	37	c.1609_1618delTGTGCCTTCG	CCDS12591.1																																																																																				0.624	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		19	43	NA	NA	NA	NA	19	43	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49657906	49657907	+	In_Frame_Ins	INS	-	-	CTG			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr19:49657906_49657907insCTG	ENST00000252825.4	-	1	774_775	c.588_589insCAG	c.(586-591)gaggag>gagCAGgag	p.196_197EE>EQE	HRC_ENST00000595625.1_In_Frame_Ins_p.196_197EE>EQE	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	196	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		tcctcctcctcctcctcctctt	0.559																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(586-591)insCAG		histidine rich calcium binding protein																																				SO:0001652	inframe_insertion	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657906_49657907insCTG		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.588_589insCAG	19.37:g.49657906_49657907insCTG	ENSP00000252825:p.Glu196_Glu197insGln						p.196_197insQ	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	775_776	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	196_197			4 X tandem repeats, acidic.|Glu-rich (acidic).|1-1.|6 X approximate tandem repeats.		Q504Y6	In_Frame_Ins	INS	ENST00000252825.4	37	c.588_589insCAG	CCDS12759.1																																																																																				0.559	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		18	70	NA	NA	NA	NA	18	70	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72429528	72429529	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr4:72429528_72429529insA	ENST00000264485.5	+	24	3235_3236	c.3118_3119insA	c.(3118-3120)gaafs	p.E1040fs	SLC4A4_ENST00000351898.6_Frame_Shift_Ins_p.E956fs|SLC4A4_ENST00000340595.3_Frame_Shift_Ins_p.E996fs|SLC4A4_ENST00000425175.1_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1040					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCCATACTCAGAAAAAGTTCCA	0.381																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(3118-3120)GAAfs		solute carrier family 4, sodium bicarbonate																																				SO:0001589	frameshift_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72429528_72429529insA	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3123dupA	4.37:g.72429533_72429533dupA	ENSP00000264485:p.Glu1040fs					SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Frame_Shift_Ins_p.E956fs|SLC4A4_uc003hfz.2_Frame_Shift_Ins_p.E1040fs|SLC4A4_uc003hgc.3_Frame_Shift_Ins_p.E996fs|SLC4A4_uc010iid.2_Frame_Shift_Ins_p.E244fs	p.E1040fs	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		24	3235_3236	+			1040			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Ins	INS	ENST00000264485.5	37	c.3118_3119insA	CCDS43236.1																																																																																				0.381	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		69	174	NA	NA	NA	NA	69	174	---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100246206	100246211	+	In_Frame_Del	DEL	GATGTC	GATGTC	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:100246206_100246211delGATGTC	ENST00000160382.5	-	7	743_748	c.637_642delGACATC	c.(637-642)gacatcdel	p.DI213del		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	213					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAGGTGGGATGATGTCAATGGCCATC	0.597																																						uc003uvy.2		NA																	0				ovary(1)	1						c.(637-642)GACATCdel		actin-like 6B																																				SO:0001651	inframe_deletion	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246206_100246211delGATGTC	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.637_642delGACATC	7.37:g.100246206_100246211delGATGTC	ENSP00000160382:p.Asp213_Ile214del					ACTL6B_uc003uvx.1_In_Frame_Del_p.DI4del|ACTL6B_uc003uvz.2_RNA	p.DI213del	NM_016188	NP_057272	O94805	ACL6B_HUMAN			7	744_749	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		213_214					A4D2D0|O75421	In_Frame_Del	DEL	ENST00000160382.5	37	c.637_642delGACATC	CCDS5702.1																																																																																				0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		9	12	NA	NA	NA	NA	9	12	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104703989	104704002	+	Frame_Shift_Del	DEL	ACATGATGATGGAT	ACATGATGATGGAT	-			TCGA-CR-6472-01A-11D-1870-08	TCGA-CR-6472-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	52f12c71-2473-4411-aad6-318a3496e82c	f7bf4ee7-86c8-4f5c-85d7-7ff4c2e3443d	g.chr7:104703989_104704002delACATGATGATGGAT	ENST00000311117.3	+	5	923_936	c.378_391delACATGATGATGGAT	c.(376-393)acacatgatgatggatacfs	p.HDDGY127fs	KMT2E_ENST00000334877.4_Frame_Shift_Del_p.HDDGY127fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.HDDGY127fs|KMT2E_ENST00000476671.1_Frame_Shift_Del_p.HDDGY127fs|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	127					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GTGGTTTTACACATGATGATGGATACATGATCTG	0.346																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(376-393)ACACATGATGATGGATACfs		myeloid/lymphoid or mixed-lineage leukemia 5																																				SO:0001589	frameshift_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104703989_104704002delACATGATGATGGAT	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.378_391delACATGATGATGGAT	7.37:g.104703989_104704002delACATGATGATGGAT	ENSP00000312379:p.His127fs					MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Frame_Shift_Del_p.T126fs|MLL5_uc003vcl.2_Frame_Shift_Del_p.T126fs|MLL5_uc010ljc.2_Frame_Shift_Del_p.T126fs	p.T126fs	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			5	912_925	+			126_131			PHD-type.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.378_391delACATGATGATGGAT	CCDS34723.1																																																																																				0.346	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			23	79	NA	NA	NA	NA	23	79	---	---	---	---
